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Dry rot caused by Diaporthe batatatis leads to the serious decay of sweetpotato storage roots during postharvest storage, which can result in considerable economic loss. Genomic research of the pathogen could provide a basis for study and prevention of sweetpotato dry rot. Herein, we report a high-quality draft genome sequence of D. batatatis CRI 302-4 isolated from infected sweetpotato storage roots in Taizhou City, Zhejiang Province, China. The size of the genome was 54.38 Mb and consisted of 36 scaffolds with a G+C content of 50.56% and an N50 of 2,950,914 bp. The information provided in this genome sequence will be an invaluable resource for molecular genetic research and disease control in sweetpotato production.

В статье рассматриваются проблемы отсутствия на сегодняшний день в Российской Федерации централизованной базы генетических данных с соответствующим правовым регулированием деятельности, связанной с генетической информацией. Хранение данных, получаемых исследователями в результате секвенирования генома на незащищенных локальных серверах, которые могут располагаться, в том числе, за пределами Российской Федерации, несет в себе опасности нарушения частных и публичных интересов, а также угрозы государственной безопасности в существующей геополитической ситуации. С момента начала картирования генома объем генетических данных резко увеличился, и хранение таких данных осуществляется главным образом с целью их использования для исследований, в том числе в области генетических заболеваний. При объединении подобных баз данных в единую систему они приобретают больший функционал, поскольку увеличивается количество доступных для поиска и анализа последовательностей ДНК. При этом возникают существенные сложности в управлении и контроле за этими данными, в том числе и в связи с тем, что в них хранится генетическая информация об идентифицируемых лицах, что предполагает необходимость обеспечения соответствующего режима доступа к этим базам данных. Кроме того, сегодня остаются неразрешенными вопросы собственности не только на сами базы данных, но и на генетическую информацию, хранящуюся в таких базах данных. В статье проанализированы поступательные шаги законодателя по созданию и урегулированию деятельности, связанной с унифицированной базой данных генетической информации. Автором сформулированы предложения по дальнейшему развитию правового регулирования генетических баз данных в Российской Федерации., The article discusses the problems of the current lack of a centralized genetic database in the Russian Federation with appropriate legal regulation of activities related to genetic information. Storage of data obtained by researchers as a result of genome sequencing on unprotected local servers, which may be located also outside the Russian Federation, poses a threat to private and public interests, as well as threats to national security in the current geopolitical situation. Since genome mapping began, the volume of genetic data has increased dramatically and such data is stored primarily for use in research, including genetic diseases. When such databases are combined into a single system, they become more functional as the number of DNA sequences available for searching and analysis increases. However, significant challenges arise in the management and control of these data, including the fact that they contain genetic information about identifiable persons, which requires an appropriate access regime for these databases. Moreover, the ownership not only of the databases themselves but also of the genetic information stored in them remains unresolved. The article analyses the progressive steps taken by the legislator in creating and regulating the activities related to the unified genetic information database. The author formulates proposals for further development of legal regulation of genetic databases in the Russian Federation., Бизнес. Образование. Право, Выпуск 1 (62) 2023, Pages 1-5

Advances in genomic research, biobanking and DNA identification technologies are expanding the use of biological and genetic evidence in litigation. The discovery of DNA and one of its functions to transmit hereditary information made it possible to look differently at the theory of a genetic predisposition to deviant behavior. The relevance of the study is due to the fact that the availability and increase of genetic research allows, along with the traditional use of genetic expertise in litigation (search and identification of a criminal, establishment of paternity), to expand the possibility of using the achievements of genetics by the parties to prove other circumstances in court. In this article, the authors analyze the US jurisprudence regarding the possibility of a party using the protection of genetic evidence in order to present a position in justification of the mitigation of punishment for an accused due to her genetic predisposition to criminal behavior. The authors also paid attention to the consideration of the issue of using the results of genetic testing in civil proceedings in order to prove the fact of the influence of the inherited gene on deviant behavior. In carrying out this study, the authors used a significant number of Russian and foreign sources of scientific literature. General and specific scientific methods of cognition, including the formal legal and comparative legal method, were used as research methods

The accelerated development of genetic technologies in the Russian Federation and their consistent use in health care, agriculture and industry for full implementation require the availability of effective organizational tools that allow not only to develop new genomic technologies but also their practical application. The article explores the legal aspects of the functioning of medical and pharmaceutical clusters; analyzes the possibilities of using a cluster approach to the organization of genomic research; it is stated that the advantage of the cluster is the concentration in a small territory of interconnected scientific organizations, educational institutions and innovative industries.

Next-generation sequencing (NGS), also known as massively parallel sequencing, has revolutionized genomic research. The current advances in NGS technology make it possible to provide high resolution, high throughput HLA typing in clinical laboratories. The focus of this review is on the recent development and implementation of NGS in clinical laboratories. Here, we examine the critical role of NGS technologies in clinical immunology for HLA genotyping. Two major NGS platforms (Illumina and Ion Torrent) are characterized including NGS library preparation, data analysis, and validation. Challenges of NGS implementation in the clinical laboratory are also discussed, including sequencing error rate, bioinformatics, result interpretation, analytic sensitivity, as well as large data storage. This review aims to promote the broader applications of NGS technology in clinical laboratories and advocate for the novel applications of NGS to drive future research.

The article is devoted to the analysis of technologies in the field of genomic research and artificial intelligence and their reflection in the accounting of healthcare institutions. Less than a quarter of the 21st century has passed, and during this time humanity has made a huge number of technological breakthroughs, both in the field of genomic research and in the field of artificial intelligence. Artificial organs and prosthetics that allow a person to live longer and more comfortably; the creation of mobile Internet, social networks and messengers that have accelerated and simplified the transfer of information between people; electric cars that are eco-friendly, maneuverable and do not require fossil resources, which sooner or later may end; self-driving cars that free up time that a person can devote to important things than driving a car; virtual and augmented reality, in which a person can safely and with pleasure move for a certain time, have become our everyday reality. The level of development of healthcare and education, the rationality of public administration and business efficiency, the speed of making space breakthroughs in other areas of human life depend on genomic research and achievements in the field of artificial intelligence.

The advent of single-cell sequencing opened a new era in transcriptomic and genomic research. To understand cell composition using single-cell studies, a variety of cell markers have been widely used to label individual cell types. However, the specific database of cell markers for use by the plant research community remains very limited. To overcome this problem, we developed the Plant Cell Marker DataBase (PCMDB, http://www.tobaccodb.org/pcmdb/), which is based on a uniform annotation pipeline. By manually curating over 130 000 research publications, we collected a total of 81 117 cell marker genes of 263 cell types in 22 tissues across six plant species. Tissue- and cell-specific expression patterns can be visualized using multiple tools: eFP Browser, Bar, and UMAP/TSNE graph. The PCMDB also supports several analysis tools, including SCSA and SingleR, which allows for user annotation of cell types. To provide information about plant species currently unsupported in PCMDB, potential marker genes for other plant species can be searched based on homology with the supported species. PCMDB is a user-friendly hierarchical platform that contains five built-in search engines. We believe PCMDB will constitute a useful resource for researchers working on cell type annotation and the prediction of the biological function of individual cells.

Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, but researchers may lack the skills and resources to do so. In response, a genetic counsellor-led program to facilitate the return of clinically actionable findings to research participants was developed to fill the identified gap in research practice and meet Australian research guidelines. A steering committee of experts reviewed relevant published literature and liaised with researchers, research participants and clinicians to determine the scope of the program, as well as the structure, protocols and infrastructure. A program called My Research Results (MyRR) was developed, staffed by genetic counsellors with input from the steering committee, infrastructure services and a genomic advisory committee. MyRR is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings, support for researchers with developing an ethical strategy for managing research findings and an online information platform. The results notification strategy is an evidence-based two-step model, which has been successfully used in other Australian studies. MyRR is a translational program supporting researchers and research participants to access clinically actionable research findings.

Although all cancers share common hallmarks, we have long realized that there is no silver-bullet treatment for the disease. Many clinical oncologists specialize in a single cancer type, based predominantly on the tissue of origin. With advances brought by genetics and cancer genomic research, we now know that cancers are profoundly different, both in origins and in genetic alterations. At the same time, commonalities such as key driver mutations, altered pathways, mutational, immune and microbial signatures and other areas (many revealed by pan-cancer studies) point to the intriguing possibility of targeting common traits across diverse cancer types with the same therapeutic strategies. Studies designed to delineate differences and similarities across cancer types are thus critical in discerning the basic dynamics of oncogenesis, as well as informing diagnoses, prognoses and therapies. We anticipate growing emphases on the development and application of therapies targeting underlying commonalities of different cancer types, while tailoring to the unique tissue environment and intrinsic molecular fingerprints of each cancer type and subtype. Here we summarize the facets of pan-cancer research and how they are pushing progress toward personalized medicine. Ding and colleagues discuss the era of pan-cancer analysis, covering the fundamental insights gained, unique opportunities and challenges, and the future of such approaches in the basic and clinical space.

The novel coronavirus disease 2019 (COVID‐19), originally identified in December 2019 Wuhan, China, has propagated to worldwide pandemic, causing many cases of death and morbidity. Since the development of COVID-19 vaccines is still under experimental stages without public access, different types of testing and detection ensuring rapid and accurate results are urgently required to prevent delaying isolation of infected patients. The traditional diagnostic and analytical methods of COVID-19 relied heavily on nucleic acid and antibody-antigen methods but are subject to assembly bias, restricted by reading length, showed some false positive/negative results and had a long turnaround time. Hence, three styles of nanopore sequencing techniques as complementary tools for COVID-19 diagnosis and analysis are introduced. The long-read nanopore sequencing technology has been adopted in metagenomic and pathological studies of virosphere including SARS-CoV-2 recently by either metagenomically, directly or indirectly sequencing the viral genomic RNA of SARS-CoV-2 in real-time to detect infected specimens for early isolation and treatment, to investigate the transmission and evolutionary routes of SARS-CoV-2 as well as its pathogenicity and epidemiology. In this article, the Nanopore-Based Metagenomic Sequencing, Direct RNA Nanopore Sequencing (DRS), and Nanopore Targeted Sequencing (NTS) become the main focus of the novel COVID-19 detecting analytical methods in sequencing platforms, which are discussed in comparison with other traditional and popular diagnostic methods. Finally, different types of nanopore sequencing platforms that are developed by Oxford Nanopore Technologies (ONT) due to various purposes and demands in viral genomic research are briefly discussed. RESUMEN La nueva enfermedad por coronavirus 2019 (COVID-19), identificada originalmente en diciembre de 2019 en Wuhan, China, se ha propagado hasta convertirse en una pandemia mundial, causando muchos casos de muerte y morbilidad. Dado que el desarrollo de las vacunas contra el COVID-19 esta todavia en fase experimental sin acceso publico, se necesitan urgentemente diferentes tipos de pruebas y de deteccion que garanticen resultados rapidos y precisos para evitar que se retrase el aislamiento de los pacientes infectados. Los metodos tradicionales de diagnostico y analisis de COVID-19 se basaban en gran medida en los metodos de acido nucleico y anticuerpo-antigeno, pero estan sujetos a un sesgo de ensamblaje, estan restringidos por la longitud de la lectura, muestran algunos resultados falsos positivos/negativos y tienen un largo tiempo de respuesta. Por lo tanto, se introducen tres estilos de tecnicas de secuenciacion de nanoporos como herramientas complementarias para el diagnostico y analisis de COVID-19. La tecnologia de secuenciacion de nanoporos de lectura larga ha sido adoptada en estudios metagenomicos y patologicos de la virosfera, incluyendo el SARS-CoV-2, recientemente, mediante la secuenciacion metagenomica, directa o indirecta del ARN genomico viral del SARS-CoV-2 en tiempo real para detectar especimenes infectados para su aislamiento y tratamiento tempranos, para investigar la transmision y las rutas evolutivas del SARS-CoV-2, asi como su patogenicidad y epidemiologia. En este articulo, la secuenciacion metagenomica basada en nanoporos, la secuenciacion directa de ARN con nanoporos (DRS) y la secuenciacion dirigida con nanoporos (NTS) se convierten en el foco principal de los nuevos metodos analiticos de deteccion de COVID-19 en plataformas de secuenciacion, que se discuten en comparacion con otros metodos de diagnostico tradicionales y populares. Finalmente, se discuten brevemente los diferentes tipos de plataformas de secuenciacion por nanoporos que son desarrolladas por Oxford Nanopore Technologies (ONT) debido a varios propositos y demandas en la investigacion genomica viral.

Background Clinical genomic professionals are increasingly facing decisions about returning incidental findings (IFs) from genetic research. Although previous studies have shown that research participants are interested in receiving IFs, yet there has been an argument about the extent of researcher obligation to return IFs. We aimed in this study to explore the perspectives of clinical genomics professionals toward returning incidental findings from genomic research. Methods We conducted a national survey of a sample (n = 113) of clinical genomic professionals using a convenient sampling. A self-administered questionnaire was used to explore their attitudes toward disclosure of IFs, their perception of the duties to return IFs and identifying the barriers for disclosure of IFs. A descriptive analysis was employed to describe participants' responses. Results Sixty-five (57.5%) respondents had faced IFs in their practice and 31 (27.4%) were not comfortable in discussing IFs with their research subjects. Less than one-third of the respondents reported the availability of guidelines governing IFs. The majority 84 (80%) and 69 (62.7%) of the study participants indicated they would return the IFs if the risk of disease threat ≥ 50% and 6–49%, respectively and 36 (31.9%) reported they have no obligation to return IFs. Conclusion Clinical genomics professionals have positive attitudes and perceptions toward the returning IFs from genomic research, yet some revealed no duty to do so. Detailed guidelines must be established to provide insights into how genomics professionals should be handled IFs.

Whilst informed consent is a key component of considering whether individual genomic research results could or should be fed back to research participants, little is known about the views of Africa...

With the introduction of systems theory to genetics, numerous opportunities for genomic research have been identified. Consequences of DNA sequence variations are systematically evaluated using the network- or pathway-based analysis, a technological basis of systems biology or, more precisely, systems genomics. Despite comprehensive descriptions of advantages offered by systems genomic approaches, pathway-based analysis is uncommon in cytogenetic (cytogenomic) studies, i.e. genome analysis at the chromosomal level. Here, we would like to express our opinion that current cytogenomics benefits from the application of systems biology methodology. Accordingly, systems cytogenomics appears to be a biomedical area requiring more attention than it actually receives.

There has been little discussion of the way genomic research results should be returned and how to obtain informed consent for this. We systematically searched the empirical literature, identifying 63 articles exploring stakeholder perspectives on processes for obtaining informed consent about return of results and/or result delivery. Participants, patients and members of the public generally felt they should choose which results are returned to them and how, ranging from direct (face-to-face, telephone) to indirect (letters, emails, web-based delivery) communication. Professionals identified inadequacies in result delivery processes in the research context. Our findings have important implications for ensuring participants are supported in deciding which results they wish to receive or, if no choice is offered, preparing them for potential research outcomes. ispartof: Personalized Medicine vol:18 issue:3 pages:295-310 ispartof: location:England status: Published online

PURPOSE Multiple efforts are underway to increase the inclusion of racial minority participants in genomic research and new forms of individualized medicine. These efforts should include studies that characterize how individuals from minority communities experience genomic medicine in diverse health-care settings and how they integrate genetic knowledge into their understandings of health-care needs. METHODS As part of a large, multisite genomic sequencing study, we surveyed individuals to assess their decision to pursue genomic risk evaluation. Participants included Latino patients recruited at Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, and non-Latino patients recruited at a large academic medical center (Mayo Clinic in Rochester, MN). Both groups agreed to receive individualized genomic risk assessments. RESULTS Comparisons between cohorts showed that Latino respondents had lower levels of decisional conflict about pursuing genomic screening but generally scored lower on genetic knowledge. Latino respondents were also more likely to have concerns about the misuse of genomic information, despite both groups having similar views about the value of genomic risk evaluation. CONCLUSION Our results highlight the importance of evaluating sociocultural factors that influence minority patient engagement with genomic medicine in diverse health-care settings.

The article explores the scientific, innovative, and technological trends of livestock development, such as digitization, robotics, and genomic research. The authors highlighted the restraining factors of the widespread introduction of digitalization and peculiarities impact of genomic research on the development of livestock products. Also they analyzed the evolution of technological stages of introduction the innovative technologies for maximum automation and robotics of all technological processes. This approach provides the farms with the necessary tools and leverage to make the decisions to improve milk quality, manage the herd, increase cow productivity, and profitability of production, outlining the overall synergistic effect.

Foot rot of sweet potato caused by Diaporthe destruens severely affects yield and quality worldwide. Research on this pathogen is limited due to nonavailability of genome resources. Here, we report a high-quality genome sequence of D. destruens isolate CRI 305-2, which was originally isolated from infected stem of sweet potato in Taizhou City, Zhejiang Province, China. The genome comprised a total length of 56,108,228 bp, consisted of 47 scaffolds with an overall G+C content of 48.7% and an N50 of 2,479,481 bp. This resource can be used as a reference for evolution mechanisms and comparative genomic research.

Missense mutations of human choline acetyltransferase (CHAT) are mainly associated with congenital myasthenic syndrome (CMS). To date, several pathogenic mutations have been reported, but due to the rarity and genetic complexity of CMS and difficult genotype-phenotype correlations, the CHAT mutations, and their consequences are underexplored. In this study, we systematically sift through the available genetic data in search of previously unreported pathogenic mutations and use a dynamic in silico model to provide structural explanations for the pathogenicity of the reported deleterious and undetermined variants. Through rigorous multiparameter analyses, we conclude that mutations can affect CHAT through a variety of different mechanisms: by disrupting the secondary structure, by perturbing the P-loop through long-range allosteric interactions, by disrupting the domain connecting loop, and by affecting the phosphorylation process. This study provides the first dynamic look at how mutations affect the structure and catalytic activity in CHAT and highlights the need for further genomic research to better understand the pathology of CHAT.

Various forms of private investment are considered necessary for the sustainability of biobanks, yet pose significant challenges to public trust. To manage this tension, it is vital to identify the concerns of relevant stakeholders to ensure effective and acceptable policy and practice. This research examines the aspects of commercialisation that are of most concern to the Australian public (n = 800) and patients who had donated their tissue to two large disease specific (cancer) public biobanks (n = 564). Overall, we found a commercialisation effect (higher support for public relative to private) in relation to funding, research location and access to stored biospecimens. The effect was strongest for research locations and access compared to funding. A latent class analysis revealed the pattern of concern differed, with the majority (34.1%) opposing all aspects of commercialisation, a minority supporting all (15.7%), one quarter (26.8%) opposing some (sharing and selling tissue) but not others (research locations and funding), and a group who were unsure about most aspects but opposed selling tissue (23.5%). Patient donors were found to be more accepting of and unsure about most aspects of commercialisation. Members of the (general) public who were motivated to participate in biobanking were more likely to oppose some aspects while supporting others, while those who indicated they would not donate to a biobank were more likely to oppose all aspects of commercialisation. The results suggest that approaches to policy, engagement and awareness raising need to be tailored for different publics and patient groups to increase participation.

Human Molecular Genetics and Genomics Genomic research has evolved from seeking to understand the fundamentals of the human genetic code to examining the ways in which this code varies among people...

General combining ability (GCA) has been successfully used to evaluate the parental performance in hybrid breeding program, while the molecular basis of GCA still remains unknown. In this study, RNA-Seq was employed to compare the transcriptome profiles that determined the GCA for yield-related traits in two different barley genotypes. A total of 1051 differentially expressed unigenes (DEGs) including 599 up-regulated DEGs and 452 down-regulated DEGs were found between Baodamai 12 and Ximala 22. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analysis revealed that many DEGs participated in metabolic process, stimulus response, catalytic activity and biosynthesis. Furthermore, 11 DEGs involved in the starch and sucrose metabolism pathway were discovered, among which eight up-regulated genes were related to beta-fructofuranosidase, pectinesterase, beta-glucosidase and hexokinase, while the other three down-regulated genes were related to sucrose-phosphate synthase, beta-glucosidase and hexokinase. These DEGs might contribute to the differences of GCA for grain weight between the two genotypes. The results may provide a new insight in the studying of the molecular basis of GCA and establish a foundation for further genomic research on the improvement of combining ability in barley breeding program.

This study sheds light on the attitudes and circumstances that influence decisions by families to donate the brain of a deceased family member for research. This study, a part of the Genotype-Tissue Expression (GTEx) project, interviewed families of patients who had authorized organ and/or tissue donation for transplantation. A total of 384 family decision makers (FDMs) who decided to donate organs and/or tissues for transplantation were also asked to donate to GTEx. Of these, 297 families were asked to donate their loved one's whole brain and 87 families responded to a hypothetical request for brain donation. The decision to donate the brain to GTEx, actually or hypothetically, was the major outcome measure. The majority of the FDMs would choose to donate the brain, 78%. Unwillingness to donate the brain was associated with four attitudes: (1) the FDM unwillingness to donate their own tissues for research (OR 1.91, 95% CI .67 to 2.96; p = .05), (2) concern with potential for-profit use of tissues (OR 2.12, 95% CI 1.2 to 3.7; p = .008), (3) reported squeamishness about tissue donation (OR 1.34, 95% CI 1.1 to 1.7; p = .006), and (4) belief that FDMs should have a say in how the donated tissues are used (OR 1.36, 95% CI 1.13 to 1.5; p = .01). Organ and tissue donors may present a plenteous source of brains for research. Family concerns about tissue use and collection should be addressed by requesters.

A technological revolution provides nations with access to unprecedented quantities of molecular information, and this is particularly evident in the vast and yet poorly understood realm of the microbiome. Traditionally, many developing countries in Asia, Africa, and South America remain marginal participants in the global flow of biodata, which will eventually affect their productivity and economies. Here, we present the Ecuadorian Microbiome Project (EcuMP) as an integrative initiative to close the research gap in the microbiome for Ecuador. We discuss the relevance that the study of the microbiome has for our understanding of diversity and new forms of production and biocapital. We also evaluate the state of research in metagenomics and the microbiome for South America, with emphasis on Ecuador as a small but biodiverse country. In the strict sense of access, understanding, and technological innovation based on molecular data, we propose the definition of bioliteracy. As indirect estimates of bioliteracy, we measured the number of indexed publications, BioProjects, monthly global internet traffic to GenBank, and patent applications in Espacenet. South America has a notable unevenness in scientific productivity related to the microbiome and metagenomics. Brazil leads productivity, with most of the measured parameters remaining one order of magnitude higher than other countries in the region. Participation of South American countries in the global flow of genomic information dwarfs when compared to the US. To reduce the effects of technological dependency and the associated lack of economic productivity, Ecuador should address the technological gap in the study of the microbiome. Our assessment reveals the urgency to translate the study of microbiomes into a source of technological prowess and the basis for local biocapitals.

Reproducibility is a significant challenge in (epi)genomic research due to the complexity of experiments composed of traditional biochemistry and informatics. Recent advances have exacerbated this challenge as high-throughput sequencing data is generated at an unprecedented pace. Here we report on our development of a Platform for Epi-Genomic Research (PEGR), a web-based project management platform that tracks and quality controls experiments from conception to publication-ready figures, compatible with multiple assays and bioinformatic pipelines. It supports rigor and reproducibility for biochemists working at the wet bench, while continuing to fully support reproducibility and reliability for bioinformaticians through integration with the Galaxy platform.

Meaningful engagement of Alaska Native (AN) tribes and tribal health organizations is essential in the conduct of socially responsible and ethical research. As genomics becomes increasingly important to advancements in medicine, there is a risk that populations not meaningfully included in genomic research will not benefit from the outcomes of that research. AN people have historically been underrepresented in biomedical research; AN underrepresentation in genomics research is compounded by mistrust based on past abuses, concerns about privacy and data ownership, and cultural considerations specific to this type of research. Working together, the National Human Genome Research Institute and two Alaska Native health organizations, Southcentral Foundation and the Alaska Native Health Board, cosponsored a workshop in July 2018 to engage key stakeholders in discussion, strengthen relationships, and facilitate partnership and consideration of participation of AN people in community-driven biomedical and genomic research. AN priorities related to translation of genomics research to health and health care, return of genomic results, design of research studies, and data sharing were discussed. This report summarizes the perspectives that emerged from the dialogue and offers considerations for effective and socially responsible genomic research partnerships with AN communities.

The exceptional advances in genomic medicine in the last two decades, since the sequencing of the human genome, have already had a major impact on healthcare in the UK. Until recently this was predominantly in secondary and tertiary care, but we must now integrate ‘mainstream’ genomics in primary care. So far integration has of necessity been empirical, but must progress towards implementation research. We describe recent work undertaken by the RCGP and the NIHR CRN outlining areas where research is needed to fully integrate genomics into routine primary care and secure the future of these exciting developments.

Biomedical research is increasingly capitalizing on an array of data to illuminate the interplay between “omics,” lifestyle, and health. Leveraging this information presents opportunities to advance knowledge but also poses risks to research participants. In interviews with thought leaders, we asked which data type associated with a hypothetical precision medicine research endeavor was riskiest: 42% chose ongoing access to electronic health records, 17% chose genomic analyses of biospecimens, and 15% chose streaming data from mobile devices. Other responses included “It depends” (15%), the three types are equally risky (8%), and the combination of data types together is riskiest (3%). When asked to consider the hypothetical study overall, 60% rated the likelihood of the risks materializing as low, but 20% rated the potential consequences as severe. These results have implications for study design and informed consent, including placing appropriate emphasis on the risks and protections for the full range of data.

The paper considers the Australian experience of human genome patenting legal regulation, and studies the Australian court practice on this issue. The aim of the study is to examine the approaches of the Australian law enforcement agencies to one of the most important aspects of the genome research legal regulation, i.e. human genome patenting, and to compare them (to conduct a comparative analysis) with the approaches of the judicial authorities of other states (USA). The authors note that, based on the Australian court practice, patenting of human DNA is possible, which makes the development of research in the human genome quite attractive for commercial companies, since it protects the possibility of such companies to obtain economic benefits from the use of scientific developments. The authors point out that the issue of patenting of an isolated genetic sequence has been the subject of litigation in other jurisdictions (in particular, the United States) involving the same defendant (Myriad Genetics). It is emphasized that, despite the similarity of legal systems, the identity of the subject of claims, the judicial authorities of the United States and Australia have formulated different approaches to determining the possibility of patenting human DNA.

This article analyses the ethical and legal aspects of data-sharing and genomic research. It begins in Part II with an overview of the nature of genomic information, and whether it is exceptional when compared to other forms of health information. Part III considers the role of data-sharing in genomic research, with the importance of public trust in supporting genomic research considered in Part IV. The Australian regulatory framework for data-sharing in genomic research is considered in Parts V and VI, with reform options discussed in Part VII. The article concludes that advances in genomic research and the complexity of the current regulatory framework make it timely to review Australian laws to ensure that they maintain their relevance for this rapidly developing field of research.

In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading researchers to reflect on the key challenges and opportunities faced by the field of genetics and genomics. Keeping their particular research area in mind, they take stock of the current state of play and emphasize the work that remains to be done over the next few years so that, ultimately, the benefits of genetic and genomic research can be felt by everyone., To celebrate the first 20 years of Nature Reviews Genetics, we asked 12 leading scientists to reflect on the key challenges and opportunities faced by the field of genetics and genomics., The contributors Amy L. McGuire is the Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. She has received numerous teaching awards at Baylor College of Medicine, was recognized by the Texas Executive Women as a Woman on the Move in 2016 and was invited to give a TedMed talk titled “There is No Genome for the Human Spirit” in 2014. In 2020, she was elected as a Hastings Center Fellow. Her research focuses on ethical and policy issues related to emerging technologies, with a particular focus on genomic research, personalized medicine and the clinical integration of novel neurotechnologies. Stacey Gabriel is the Senior Director of the Genomics Platform at the Broad Institute since 2012 and has led platform development, execution and operation since its founding. She is Chair of Institute Scientists and serves on the institute’s executive leadership team. She is widely recognized as a leader in genomic technology and project execution. She has led the Broad’s contributions to numerous flagship projects in human genetics, including the International HapMap Project, the 1000 Genomes Project, The Cancer Genome Atlas, the National Heart, Lung, and Blood Institute’s Exome Sequencing Project and the TOPMed programme. She is Principal Investigator of the Broad’s All of Us (AoU) Genomics Center and serves on the AoU Program Steering Committee. Sarah A. Tishkoff is the David and Lyn Silfen University Associate Professor in Genetics and Biology at the University of Pennsylvania, Philadelphia, USA, and holds appointments in the School of Medicine and the School of Arts and Sciences. She is a member of the US National Academy of Sciences and a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award and an American Society of Human Genetics Curt Stern Award. Her work focuses on genomic variation in Africa, human evolutionary history, the genetic basis of adaptation and phenotypic variation in Africa, and the genetic basis of susceptibility to infectious disease in Africa. Ambroise Wonkam is Professor of Medical Genetics, Director of GeneMAP (Genetic Medicine of African Populations Research Centre) and Deputy Dean Research in the Faculty of Health Sciences, University of Cape Town, South Africa. He has successfully led numerous NIH- and Wellcome Trust-funded projects over the past decade to investigate clinical variability in sickle cell disease, hearing impairment genetics and the return of individual findings in genetic research in Africa. He won the competitive Clinical Genetics Society International Award for 2014 from the British Society of Genetic Medicine. He is president of the African Society of Human Genetics. Aravinda Chakravarti is Director of the Center for Human Genetics and Genomics, the Muriel G. and George W. Singer Professor of Neuroscience and Physiology, and Professor of Medicine at New York University School of Medicine. He is an elected member of the US National Academy of Sciences, the US National Academy of Medicine and the Indian National Science Academy. He has been a key participant in the Human Genome Project, the International HapMap Project and the 1000 Genomes Project. His research attempts to understand the molecular basis of multifactorial disease. He was awarded the 2013 William Allan Award by the American Society of Human Genetics and the 2018 Chen Award by the Human Genome Organization. Eileen E. M. Furlong is Head of the Genome Biology Department at the European Molecular Biology Laboratory (EMBL) and a member of the EMBL Directorate. She is an elected member of the European Molecular Biology Organization (EMBO) and the Academia Europaea, and a European Research Council (ERC) advanced investigator. Her group dissects fundamental principles of how the genome is regulated and how it drives cell fate decisions during embryonic development, including how developmental enhancers are organized and function within the 3D nucleus. Her work combines genetics, (single-cell) genomics, imaging and computational approaches to understand these processes. Her research has advanced the development of genomic methods for use in complex multicellular organisms. Barbara Treutlein is Associate Professor of Quantitative Developmental Biology in the Department of Biosystems Science and Engineering of ETH Zurich in Basel, Switzerland. Her group uses and develops single-cell genomics approaches in combination with stem cell-based 2D and 3D culture systems to study how human organs develop and regenerate and how cell fate is regulated. For her work, Barbara has received multiple awards, including the Friedmund Neumann Prize of the Schering Foundation, the Dr. Susan Lim Award for Outstanding Young Investigator of the International Society of Stem Cell Research and the EMBO Young Investigator Award. Alexander Meissner is a scientific member of the Max Planck Society and currently Managing Director of the Max Planck Institute (MPI) for Molecular Genetics in Berlin, Germany. He heads the Department of Genome Regulation and is a visiting scientist in the Department of Stem Cell and Regenerative Biology at Harvard University. Before his move to the MPI, he was a tenured professor at Harvard University and a senior associate member of the Broad Institute, where he co-directed the epigenomics programme. In 2018, he was elected as an EMBO member. His laboratory uses genomic tools to study developmental and disease biology with a particular focus on epigenetic regulation. Howard Y. Chang is the Virginia and D. K. Ludwig Professor of Cancer Genomics at Stanford University and an investigator at the Howard Hughes Medical Institute. He is a physician–scientist who has focused on deciphering the hidden information in the non-coding genome. His laboratory is best known for studies of long non-coding RNAs in gene regulation and development of new epigenomic technologies. He is an elected member of the US National Academy of Sciences, the US National Academy of Medicine, and the American Academy of Arts and Sciences. Núria López-Bigas is ICREA research Professor at the Institute for Research in Biomedicine and Associate Professor at the University Pompeu Fabra. She obtained an ERC Consolidator Grant in 2015 and was elected as an EMBO member in 2016. Her work has been recognized with the prestigious Banc de Sabadell Award for Research in Biomedicine, the Catalan National Award for Young Research Talent and the Career Development Award from the Human Frontier Science Program. Her research focuses on the identification of cancer driver mutations, genes and pathways across tumour types and in understanding the mutational processes that lead to the accumulation of mutations in cancer cells. Eran Segal is Professor in the Department of Computer Science and Applied Mathematics at the Weizmann Institute of Science, heading a multidisciplinary laboratory with extensive experience in machine learning, computational biology and analysis of heterogeneous high-throughput genomic data. His research focuses on the microbiome, nutrition and genetics, and their effect on health and disease and aims to develop personalized medicine based on big data from human cohorts. He has published more than 150 publications and received several awards and honours for his work, including the Overton and the Michael Bruno awards. He was recently elected as an EMBO member and as a member of the Israel Young Academy. Jin-Soo Kim is Director of the Center for Genome Engineering in the Institute for Basic Science in Daejon, South Korea. He has received numerous awards, including the 2017 Asan Award in Medicine, the 2017 Yumin Award in Science and the 2019 Research Excellence Award (Federation of Asian and Oceanian Biochemists and Molecular Biologists). He was featured as one of ten Science Stars of East Asia in Nature (558, 502–510 (2018)) and has been recognized as a highly cited researcher by Clarivate Analytics since 2018. His work focuses on developing tools for genome editing in biomedical research.

The object of this research is the determination of means of establishing the results of genomic research as the objects of intellectual property. The author analyzes the Russian normative legal acts regulating the questions of conducting genomic research and securing the rights to their results. The problem of absence of the universal definition and conceptual framework for genomic research in the national legislation is indicated. Analysis is carried out on the defended in legal community scientific positions pertaining to the need for separate consolidation and legal regulation of each type of product or organism that contains genes, or derivative from biomaterial, as well as the genes and genome themselves. The main conclusions consists in formulation and substantiation of the concept of “genomic research” and the results of genomic research. The original classification of the results of genomic research into static and dynamic is proposed. The author believes that the intellectual property law is most suitable for legal regulation and consolidation of the rights to results of genomic research. Inexpedience of determining each type of product or organism that creates or contains biomaterial as an object of intellectual property is substantiated. The author holds that the amendments to legislation should be introduced in exceptional circumstances when a new object possesses unique characteristics, and the existing tools of intellectual property law do not allow reflecting its specificity and protect the interests of its bearer.

Patient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

This article is devoted to the analysis of diff erences in approaches and in choice of tools at the international (universal) and European (regional) levels of interaction between states in the regulation of relations in the fi eld of genomic research and the implementation of their results. The article analyzes specifi cs of approaches at the universal and regional level, including activities of the UN family bodies, the Council of Europe, the European Union in the fi eld of protecting human rights and human genomics. Special attention is paid to the role of international soft law in the development of legal regulation (self-regulation) in the mentioned fi eld. The materials of the article can be useful both in theoretical and practical jurisprudence, and may also be of interest for other areas of the human genome research (bioinformatics, medicine, human reproduction, etc.).

There is growing evidence that human genetics plays a significant role in shaping human responses to infectious diseases. For instance, individuals' genetic susceptibility or resistance to infectious disease is likely to affect disease transmission. Yet little attention has been paid to the ethical, legal, and social implications of research in genomics and infectious disease, despite the unique ethical issues that arise in this arena. This article presents results from a pilot study exploring ethics in research on human genetics and response to HIV and other infectious diseases and is focused on perspectives from expert stakeholders. Whereas chairs of institutional review boards, biobank directors, and researchers in genomics and infectious disease expressed similar views about research privacy in the context of a public health emergency, they expressed different perspectives about the role that public health considerations ought to play in the return of individual results to research participants. These perspectives highlight the need to emphasize the importance of broad dialogue for helping various parties navigate the ethically complex current and future challenges of genomics and infectious disease research.

Lack of diversity among genomic research participants results in disparities in benefits from genetic testing. To address this, the Alabama Genomic Health Initiative employed community engagement strategies to recruit diverse populations where they lived. In this paper, we describe our engagement techniques and recruitment strategies, which resulted in significant improvement in representation of African American participants. While African American participation has not reached the representation of this community as a percentage of Alabama's overall population (26%–27%), we have achieved an overall representation exceeding 20% for African Americans. We believe this demonstrates the value of engagement and recruitment where diverse populations reside.

Global ecosystem functions, services, and commodities are increasingly threatened by biological invasions. As a result, there is an urgent need to manage invasive species through global collaborative research. We propose an ‘applied empirical framework’ (AEF) to aggressively confront the current global biological invasion crisis. The AEF builds on existing models for invasion science that advocate 1) standardized research designs to reveal key aspects of biological invasion, and 2) collaborative research to facilitate the sharing of resources and information. The AEF further emphasizes the need for 3) the production of research ‘tools’ (e.g., data, methodologies, technical instruments) designed for direct uptake by agencies that manage biological invasion, and 4) a taxonomically targeted approach in which task forces conduct rapid, in-depth research on top-priority invasive species across their entire geographic range. We review collaborative science and the distinctive roles played by different collaborator types. We then provide an example of the AEF in action through the BioSAFE initiative (Biosurveillance of Alien Forest Enemies), a highly collaborative project aimed at developing genomic research tools to facilitate biosurveillance and intervention for forest invasive species. We illustrate the BioSAFE approach through our research on two polyphagous insect species: the wood-borer Anoplophora glabripennis, Motschusky (Coleoptera: Cerambycidae; Asian longhorned beetle) and the defoliator Lymantria dispar, Linnaeus spp. (Lepidoptera: Lymantriidae; gypsy moth). These examples illustrate how the AEF can focus and accelerate our response to the global biological invasion crisis by applying the resource capabilities of collaborative research groups to generate management tools for top-priority invasive species.

BACKGROUND: A growing literature has raised—skeptically—the question of whether cutting-edge scientific research can identify and address broader ethical and policy considerations in real time. In genomics, the question is: Can ELSI contribute to genomics in real time, or will it be relegated to its historical role of after-the-fact outsider critique? We address this question against the background of a genomic screening project where we participated as embedded, real-time ELSI researchers and observers, from its initial design through its conclusion. METHODS: As part of the ELSI study design, the project included an ongoing reflexive ethnography in which the authors studied the process of its design and implementation. The authors were true participant observers, serving as members of various task-oriented groups while recording meetings and other events for ongoing qualitative analysis. We also conducted and analyzed interviews of multiple participants at the conclusion of the project. RESULTS: Our real-time ELSI initiative had a mixed record of successes and challenges. If we take define success as ELSI researchers having had an opportunity to participate fully in the project and to make the ELSI perspective heard, then our assessment is largely positive. If, however, we define successes as instances where real-time ELSI contributions changed the direction of the genomic or public health aspects of the GeneScreen project or, after careful deliberation, confirmed the appropriateness of the status quo, then we can identify only a few examples. While we had a seat at the table, we were, for the most part, tolerated guests. CONCLUSIONS: We conclude that there are significant barriers to real-time ELSI influence. The difficulty does not reside in any intended exclusion of an ELSI perspective, but in factors endemic to genomic research, including knowledge disparities, epistemological biases, and the pressures of time and money.

The lack of representation of diverse ancestral backgrounds in genomic research is well-known, and the resultant scientific and ethical limitations are becoming increasingly appreciated. The paucity of data on individuals with African ancestry is especially noteworthy as Africa is the birthplace of modern humans and harbors the greatest genetic diversity. It is expected that greater representation of those with African ancestry in genomic research will bring novel insights into human biology, and lead to improvements in clinical care and improved understanding of health disparities. Now that major efforts have been undertaken to address this failing, is there evidence of these anticipated advances? Here, we evaluate the promise of including diverse individuals in genomic research in the context of recent literature on individuals of African ancestry. In addition, we discuss progress and achievements on related technological challenges and diversity among scientists conducting genomic research.

Tissue samples may be collected from children in the course of their clinical care, or when they participate in research. Those samples may be stored in research biobanks. However, as the removal of tissue from children in Australia is regulated by State and Territory legislation, clinicians and researchers require an understanding of the regulatory framework. Removal of tissue from children for purposes not authorised under legislation can result in offences being committed. In addition, ethical issues arise from the collection and storage of children's tissue for research purposes. Tissue used for genomic research also brings additional risks to participants. This paper describes the current law, discusses its inadequacies and raises some of the key ethical issues that Australian researchers need to know. This paper focuses on the removal and use of paediatric tissue for research purposes only.

Transcription factors (TFs) recognize and bind to specific DNA sequences, thereby altering the chromatin structure and regulating transcription. TFs aid in the formation of a guide genome that facilitates the expression of genes under complex regulation. Understanding the underlying mechanism that mediates the TF-led regulation of gene expression is a popular topic in current genomic research. However, identifying the precise TF binding site (TFBS) and the specific role of the TFs in transcriptional regulation is challenging. This article summarizes the status of research concerning the prediction of TFBS. First, the experimental methods for identifying TFBS have been summarized by accessing related databases. Second, the machine learning methods for predicting TFBS, especially deep learning, have been summarized. Finally, the study elaborates on the main challenges faced in TFBS prediction. The purpose of this article is to provide researchers with a comprehensively understand the prediction of TFBS and to promote further development in this field.

Researchers now commonly collect biospecimens for genomic analysis together with information from mobile devices and electronic health records. This rich combination of data creates new opportunities for understanding and addressing important health issues, but also intensifies challenges to privacy and confidentiality. Here, we elucidate the “web” of legal protections for precision medicine research by integrating findings from qualitative interviews with structured legal research and applying them to realistic research scenarios involving various privacy threats.

Introduction: along with major civilizational revolutions, the past 50 years have seen advances of the biotechnological, or genetic, revolution. It has resulted in the development of industries such as transplantology, pro-creative technologies, gerontology, etc., which led to a sharp change in the anthropological situation and transformation of human corporeality. Due to the biotechnological revolution, people learned how to diagnose and treat hereditary diseases, life expectancy increased, and birth control became possible. This revolution gave rise to a new conceptual language, in the structure of which the concept of ‘genomic information’ occupies the most important place. Purpose: the article is devoted to the analysis and substantiation of the areas of legal impact on the results of genomic research, which is caused by technological modernization and new information processes occurring in chemical, biological, and medical science and practice. To achieve this goal, the authors study the problems arising from the circulation of genomic information and analyze the directions of legal impact on new objects appearing as a result of advances in genomic research. Methods: the methodological framework of the research is based on universal (philosophical), general scientific, specific (including special legal) scientific methods: dialectical, logical, concrete historical, sociological, comparative legal and formal legal. The specificity of the research subject determined the use of the systems approach. Results: we can distinguish three aspects in the analysis of the concept of ‘genome’: functional, informational, axiological. The genome is defined in different ways depending on which of the aspects is chosen; accordingly, different legal means and elements of legal impact are used within each of the aspects. Legal relations being the focus of the legislators' attention have a significant influence on the choice of means of legal impact. Conclusions: today it is necessary to seek solutions on how to legally ensure the establishment, regulation, protection of social relations in the field of genomic research. It is also necessary to supplement the current legislation of the Russian Federation with norms of protective nature that would prohibit employers or other organizations from demanding or requesting genetic tests as a condition for being hired or receiving social benefits.

By accumulating ever greater amounts of genomic data, scientists have identified >100 genes associated with Mendelian forms of epilepsy and neurodevelopmental disorders with seizures. For most of the identified genes a wide range of genetic variants have been identified and affected patients are clinically heterogeneous. It is not clear to which degree the clinical heterogeneity can be attributed to the disease causing variant alone. We need to improve our current understanding of biophysical effects of variants on protein function and the role of polygenic background in modifying the clinical representation. In addition, longitudinal clinical data need to be recorded using standardized methods and shared across research centers to build large virtual cohorts for each single gene disorder. Without large, comprehensive, longitudinal datasets, studying the interplay of environmental factors and genetic factors will be challenging. As a community, we must work together to set the foundation for biorepositories and the collection and sharing of ‘big data’ in order to allow genetic-phenotypic characterization of the epilepsies and to fully utilize the potential for drug discovery, and patient-specific tailored management.

The development of genomic research as an applied field requires the determination of their legal status in the Russian Federation. One of the directions could be the use of self-regulation in this area. The article discusses the features of Russian legislation and the recognition of the status of medical intervention for genomic research. International ethical standards are considered as the basis for this approach.