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Background Genome-wide functional genetic studies of food-borne pathogens could provide a comprehensive understanding of the mechanisms underline their survival and pathogenesis in the harsh environments during food processing and infections. Traditional methods such as physical mutagenesis, chemical mutagenesis, and labeled DNA fragment insertion mutation techniques are time-consuming, labor-intensive and low precision. Although RNA-Seq and other omics methods enable high-throughput research on a genome-wide scale, the obtained results of gene transcription or expression cannot establish direct causal connection between the genetic determinants and particular functions. Scope and approach Transposon sequencing (Tn-seq) is an emerging microbial functional genomic technology based on transposon mutagenesis and high-throughput sequencing technologies, which is able to quantitatively track millions of independent mutants in a single experiment, and therefore efficiently map the “genotype-phenotype” relationship and the genetic interaction networks of a bacterium. Key findings and conclusions This article summarizes the common types and hazards of food-borne pathogens, the development of Tn-seq technology, and its applications in studying the physiology, pathogenesis, and environmental survival of food-borne pathogens.

The adoption of genomic technology and the use of improved seeds are expected to improve timber productivity in Alberta. However, this improvement will need to take place within the confines of the...

New data on several COVID-19 infection parameters are slowly beginning to emerge which include the relative frequencies of symptomatic versus asymptomatic individuals positive for COVID-19, individual variation in response to re-purposed drug treatments, prognostic factors for developing severe COVID-19 and genetic risk factors for COVID-19 susceptibility and severity. From a larger perspective, it is our view that these parameters endorse the call for greater efforts in personalised medicine, especially when specific pharmacological interventions (i.e. vaccines or drugs to COVID-19 and other zoonotic diseases) are yet to be developed. Here, the aim of personalised medicine would be to rapidly identify vulnerable individuals and subsequently to design better treatment regimens for them, should COVID-19 or other pandemics appear in future. Application of genomic technology also will continue to be of importance to gain knowledge about the biology of the virus and will facilitate vaccine development and predict markers of resistance and/or susceptibility. © 2021. Penerbit UMT

Recent advances in genomic technology and widespread adoption of electronic health records (EHRs) have accelerated the development of genomic medicine, bringing promising research findings from genome science into clinical practice. Genomic and phenomic data, accrued across large populations through biobanks linked to EHRs, have enabled the study of genetic variation at a phenome-wide scale. Through new quantitative techniques, pleiotropy can be explored with phenome-wide association studies, the occurrence of common complex diseases can be predicted using the cumulative influence of many genetic variants (polygenic risk scores), and undiagnosed Mendelian syndromes can be identified using EHR-based phenotypic signatures (phenotype risk scores). In this review, we trace the role of EHRs from the development of genome-wide analytic techniques to translational efforts to test these new interventions to the clinic. Throughout, we describe the challenges that remain when combining EHRs with genetics to improve clinical care.

Context Breech flystrike is a costly trait to measure. Industry investment into genetic solutions for breech flystrike has resulted in the availability of estimated breeding values for indicator traits, such as breech wrinkle, breech cover and dag. However, selection is based on indicator traits rather than breech flystrike itself, and genetic gains could be enhanced through genomic selection approaches. Aim This study investigated whether genomic approaches based on major genes, such as marker-assisted selection, or genomic selection based on genomic breeding values, would be the most efficient application of genomic information to enhance genetic gains for breech flystrike resistance. Methods The analysis comprised 1535 sheep of the Merino Breeding for Breech Flystrike Resistance Resource flocks from New South Wales and Western Australia with high density genotypes (actual and imputed). A genome-wide association study was conducted on breech flystrike and its indicator traits, namely, breech wrinkle, dag and breech cover. The study also estimated genomic breeding values and their accuracy. Key results The SNP associations found in this study did not point to the existence of few genes with major effects on breech flystrike resistance or its indicator traits. Throughout the genome, associations of small effect were found, which enabled the estimation of genomic breeding values. However, these were of low accuracy, as expected for the size of the dataset. Conclusion Genomic prediction of breeding values for breech flystrike resistance is a feasible tool for applying genomic technology in the Merino industry. Implications A reference population of appropriate size needs to be established for this difficult-to-measure trait, and a dispersed reference population could be an effective option.

Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines. This can place an increased burden on paediatricians, who may now be responsible for interpreting and explaining test results to patients. However, genomic results can be complex, and sometimes inconclusive for the ordering paediatrician. Results may also cause uncertainty and anxiety for patients and their families. The paediatrician's genetic literacy and knowledge of genetic principles are therefore critical to inform discussions with families and guide ongoing patient care. Here, we present four hypothetical case vignettes where genomic testing is undertaken, and discuss possible results and their implications for paediatricians and families. We also provide a list of key terms for paediatricians.

Non-invasive prenatal testing (NIPT) is a genomic technology used to predict the chance of a foetus having a genetic condition. Despite the immediacy of this technology’s integration into clinical practice, there is a dearth of evidence outlining how both patients and professionals experience NIPT on the ground. In this article, we draw upon our collective empirical research—specifically on earlier screening technologies (BKR), Down syndrome screening (GT), genetic screening/testing (JL) and NIPT (HS)—to outline the most pressing and often controversial issues which, we argue, remain unresolved and vital to consider regarding NIPT. We begin with a brief introduction to NIPT as a prenatal technology and the bodies of literature which unpack its ‘social life’. In what follows, BKR discusses NIPT within the context of her research on ‘the tentative pregnancy’ and diagnostic testing in the USA. In the following sections, GT, HS and JL identify different, but related, concerns with respect to NIPT, particularly around routinisation, commercialisation, choice, abortion, and configurations of disability and ‘normalcy’.

Advances in genomic technology and the launch of the NHS Genomic Medicine Service (GMS) in 2018 have firmly embedded genomic testing within routine clinical care. As the gateway to the NHS, primary care practitioners will be managing increasing numbers of patients who are eligible for genomic testing, or who present with their own, or a family member’s genomic test result. This article provides an overview of recent developments in the field of genomics, explains key concepts and terminology, and details the current organisation of the genomics services under the GMS. It also discusses some common presentations within primary care to highlight the relevance of genomics to frontline GPs.

This bibliography provides a collection of references that documents the evolution of studies evidencing interbreeding among Canis species in North America. Over the past several decades, advances in biology and genomic technology greatly improved our ability to detect and characterize species interbreeding, which has significance for understanding species in a changing landscape as well as for endangered species management. This bibliography includes a discussion within each category of interbreeding, the timeline of developing evidence, and includes a review of past research conducted on experimental crosses. Research conducted in the early 20th century is rich with detailed records and photographs of hybrid offspring development and behavior. With the progression of molecular methods, studies can estimate historical demographic parameters and detect chromosomal patterns of ancestry. As these methods continue to increase in accessibility, the field will gain a deeper and richer understanding of the evolutionary history of North American Canis.

Owing to advances in genomic technology, the days of personalised medicine are truly upon us. Personalised medicine, also called precision or individualised medicine, is an evolving field of practice in which physicians use genomic information to guide the optimal course of treatment. Personalised medicine recognises the individuality of every patient who walks into a medical practice and acknowledges that each patient will require their own unique intervention to ensure optimal health outcomes.

Clinical recognition of the genetic causes of female reproductive failure using increasingly advancing genetic technologies to preserve patient safety and move towards personalized treatment application is a major challenge of reproductive medicine in the 21st century. The aim of this thesis was to demonstrate a reliable application of advanced genomic techniques in different stages of female reproductive failure in real-life clinical or research scenarios. Several genetic approaches were exploited – starting from the multifactor genetic testing of preimplantation embryos to select the ones free of inherited monogenic conditions and chromosomal aberrations, then following with the analysis of fetal material in case of early pregnancy loss using array comparative genomic hybridization and short tandem repeat analysis to exclude maternal cell contamination, and finally using next generation sequencing technology to analyze genetic landscape leading to preterm delivery in women with cervical insufficiency. The practical work described here was published as three scientific articles now forming three chapters of this thesis. Array comparative genomic hybridization combined with loci-specific genetic testing techniques allowed for a versatile and reliable analysis of preimplantation embryos to select the ones free of genetic conditions analyzed, and in combination with microsatellite analysis it also allowed to access the chromosomal causes of early pregnancy loss while reducing the misdiagnosis caused by maternal cell contamination. Next generation sequencing application allowed to identify the disruptive variants potentially contributive to the development of non-syndromic cervical insufficiency. Pathway enrichment analysis of variant genes from our cohort revealed an increased variation burden in genes playing roles in tissue mechanical and biomechanical properties. Literature analysis allowed to conclude that number of genes can be reliably attributed to female reproductive failure and an increasing number of genes form a pool of good candidates. In order to develop diagnostic gene panels and facilitate genetic advancement inclusion in the clinical practice of female reproduction, a standardized clinical gene-disease validity assessment of the identified genes has to be performed and best practice guidelines have to be composed.

Nanopore sequencing is an emerging genomic technology with great potential. However, the storage and analysis of nanopore sequencing data have become major bottlenecks preventing more widespread adoption in research and clinical genomics. Here, we elucidate an inherent limitation in the file format used to store raw nanopore data – known as FAST5 – that prevents efficient analysis on high-performance computing (HPC) systems. To overcome this we have developed SLOW5, an alternative file format that permits efficient parallelisation and, thereby, acceleration of nanopore data analysis. For example, we show that using SLOW5 format, instead of FAST5, reduces the time and cost of genome-wide DNA methylation profiling by an order of magnitude on common HPC systems, and delivers consistent improvements on a wide range of different architectures. With a simple, accessible file structure and a ~25% reduction in size compared to FAST5, SLOW5 format will deliver substantial benefits to all areas of the nanopore community.

Epithelial–mesenchymal transition (EMT) is an important biological process through which epithelial cells undergo phenotypic transitions to mesenchymal cells by losing cell–cell adhesion and gaining migratory properties that cells use in embryogenesis, wound healing, and cancer metastasis. An important research topic is to identify the underlying gene regulatory networks (GRNs) governing the decision making of EMT and develop predictive models based on the GRNs. The advent of recent genomic technology, such as single‐cell RNA sequencing, has opened new opportunities to improve our understanding about the dynamical controls of EMT. In this article, we review three major types of computational and mathematical approaches and methods for inferring and modeling GRNs driving EMT. We emphasize (1) the bottom‐up approaches, where GRNs are constructed through literature search; (2) the top‐down approaches, where GRNs are derived from genome‐wide sequencing data; (3) the combined top‐down and bottom‐up approaches, where EMT GRNs are constructed and simulated by integrating bioinformatics and mathematical modeling. We discuss the methodologies and applications of each approach and the available resources for these studies.

Objectives To review heredity cancer syndromes involving the breasts, ovaries, or breast and ovaries. To recommend useful professional and patient resources on cancer genetics. A case study of germline BRCA genetic testing after allogeneic bone marrow transplant is presented. Data Sources National guidelines, evidence-based summaries, peer-reviewed studies, editorials, and professional Web sites. Conclusion Advancing genetic/genomic technology in oncology has led to a renaissance of information about hereditary cancer syndromes. Implications for Nursing Practice Nursing competence in genetics/genomics is necessary to provide evidence-based, personalized care for individuals with cancer. Resources are available to help nurses provide quality cancer genetic informed care.

William Farnsworth Loomis studied the social amoeba Dictyostelium discoideum for more than fifty years as a professor of biology at the University of California, San Diego, USA. This biographical reflection describes Dr. Loomis’ major scientific contributions to the field within a career arc that spanned the early days of molecular biology up to the present day where the acquisition of high-dimensional datasets drive research. Dr. Loomis explored the genetic control of social amoeba development, delineated mechanisms of cell differentiation, and significantly advanced genetic and genomic technology for the field. The details of Dr. Loomis’ multifaceted career are drawn from his published work, from an autobiographical essay that he wrote near the end of his career and from extensive conversations between him and the two authors, many of which took place on the deck of his beachfront home in Del Mar, California.

The Doctoral Thesis was developed at Rīga Stradiņš University, Scientific laboratory of molecular genetics and ‘IVF Riga’ clinic. Defence: at the public session of the Promotion Council of the Basic Sciences of Medicine, Including Pharmacy on 3rd November at 12.00 remotely via online platform Zoom. Clinical recognition of the genetic causes of female reproductive failure using increasingly advancing genetic technologies to preserve patient safety and move towards personalized treatment application is a major challenge of reproductive medicine in the 21st century. The aim of this thesis was to demonstrate a reliable application of advanced genomic techniques in different stages of female reproductive failure in real-life clinical or research scenarios. Several genetic approaches were exploited – starting from the multifactor genetic testing of preimplantation embryos to select the ones free of inherited monogenic conditions and chromosomal aberrations, then following with the analysis of fetal material in case of early pregnancy loss using array comparative genomic hybridization and short tandem repeat analysis to exclude maternal cell contamination, and finally using next generation sequencing technology to analyze genetic landscape leading to preterm delivery in women with cervical insufficiency. The practical work described here was published as three scientific articles now forming three chapters of this thesis. Array comparative genomic hybridization combined with loci-specific genetic testing techniques allowed for a versatile and reliable analysis of preimplantation embryos to select the ones free of genetic conditions analyzed, and in combination with microsatellite analysis it also allowed to access the chromosomal causes of early pregnancy loss while reducing the misdiagnosis caused by maternal cell contamination. Next generation sequencing application allowed to identify the disruptive variants potentially contributive to the development of non-syndromic cervical insufficiency. Pathway enrichment analysis of variant genes from our cohort revealed an increased variation burden in genes playing roles in tissue mechanical and biomechanical properties. Literature analysis allowed to conclude that number of genes can be reliably attributed to female reproductive failure and an increasing number of genes form a pool of good candidates. In order to develop diagnostic gene panels and facilitate genetic advancement inclusion in the clinical practice of female reproduction, a standardized clinical gene-disease validity assessment of the identified genes has to be performed and best practice guidelines have to be composed.

Functional genomics enhances the understanding of fundamental fungal biology and aids in improving the production of valuable bioactive fungal compounds. Available gene manipulation approaches to study filamentous fungi are generally inefficient, time-consuming, and laborious. A robust genomic technology CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR-associated protein) is a simple, effective, and precise genome editing tool that has revolutionized gene editing and systematic research on filamentous fungi. This chapter provides an insight into the concepts and recent developments of CRISPR-Cas9 tools for the precise change of endogenous genes and for the complete knockout of their expression, transcriptional regulation and multiplex genome editing. In addition, the current and potential applications of the CRISPR-Cas9 system for decoding and confirmation of the fungal pathogenesis, metabolite engineering, biocontrol, chromatin dynamics, multiple signaling cascades, and cell imaging are highlighted. The chapter also describes various challenges faced in the development and applications of the CRISPR-Cas9 system. Further, the dilemmas associated with the potential applications of these tools in filamentous fungi are explored.

Recently, advances in genomic technology such as RNA sequencing and genome-wide profiling have enabled the identification of considerable numbers of non-coding RNAs (ncRNAs). MicroRNAs (miRNAs) have been studied for decades, leading to the identification of those with disease causing and/or protective effects in vascular disease. Although other ncRNAs such as long non-coding RNAs (lncRNAs) have not been fully described yet, recent studies have indicated their important functions in the development of vascular diseases. Here, we summarize the current understanding of the mechanisms and functions of ncRNAs, focusing on miRNAs, circular RNAs, and lncRNAs in vascular diseases.

Improvements in genetic and genomic technology have enabled field-deployable molecular laboratories and these have been deployed in a variety of epidemics that capture headlines. In this editorial, we highlight the importance of building physical and personnel capacity in low and middle income countries to deploy these technologies to improve diagnostics, understand transmission dynamics and provide feedback to endemic communities on actionable timelines. We describe our experiences with molecular field research on schistosomiasis, trypanosomiasis and rabies and urge the wider tropical medicine community to embrace these methods and help build capacity to benefit communities affected by endemic infectious diseases.

Theodosius Dobzhansky’s essay, “Nothing in Biology Makes Sense Except in the Light of Evolution,” reflects on how evolution gives a powerful perspective to biological phenomena, able to integrate disparate pieces of information into coherent narratives. Biology can be messy, with many organisms, cell types, parts, and data. The recent revolution in genomic technology has generated a deluge of data that, correctly interpreted, can illuminate the relationship between and the ancestry of different organisms, the mechanisms that give rise to variability, and how this variability enables organisms to adapt to new environments.

Summary Quality control (QC) of genome wide association study (GWAS) result files has become increasingly difficult due to advances in genomic technology. The main challenges include continuous increases in the number of polymorphic genetic variants contained in recent GWASs and reference panels, the rising number of cohorts participating in a GWAS consortium, and inclusion of new variant types. Here, we present GWASinspector, a flexible R package for comprehensive QC of GWAS results. This package is compatible with recent imputation reference panels, handles insertion/deletion and multi-allelic variants, provides extensive QC reports and efficiently processes big data files. Reference panels covering three human genome builds (NCBI36, GRCh37 and GRCh38) are available. GWASinspector has a user friendly design and allows easy set-up of the QC pipeline through a configuration file. In addition to checking and reporting on individual files, it can be used in preparation of a meta-analysis by testing for systemic differences between studies and generating cleaned, harmonized GWAS files. Comparison with existing GWAS QC tools shows that the main advantages of GWASinspector are its ability to more effectively deal with insertion/deletion and multi-allelic variants and its relatively low memory use. Availability and implementation Our package is available at The Comprehensive R Archive Network (CRAN): https://CRAN.R-project.org/package=GWASinspector. Reference datasets and a detailed tutorial can be found at the package website at http://gwasinspector.com/. Supplementary information Supplementary data are available at Bioinformatics online.

In light of recent developments in genomic technology and the rapid accumulation of genomic information, a major transition toward precision medicine is anticipated. However, the clinical applications of genomic information remain limited. This lag can be attributed to several complex factors, including the knowledge gap between medical experts and bioinformaticians, the distance between bioinformatics workflows and clinical practice, and the unique characteristics of genomic data, which can make interpretation difficult. Here we present a novel genomic data model that allows for more interactive support in clinical decision-making. Informational modelling was used as a basis to design a communication scheme between sophisticated bioinformatics predictions and the representative data relevant to a clinical decision. This study was conducted by a multidisciplinary working group who carried out clinico-genomic workflow analysis and attribute extraction, through Failure Mode and Effects Analysis (FMEA). Based on those results, a clinical genome data model (cGDM) was developed with 8 entities and 46 attributes. The cGDM integrates reliability-related factors that enable clinicians to access the reliability problem of each individual genetic test result as clinical evidence. The proposed cGDM provides a data-layer infrastructure supporting the intellectual interplay between medical experts and informed decision-making.

Among the reproductive biotechnologies, in vitro embryo production (IVEP) is an important tool for multiplying genetic material of superior merit. Recently, the number of embryos produced and transferred in vitro became significantly higher than that produced in vivo worldwide. In this context, the enhancement was attributable to ovum pick-up (OPU). With the advent of genomic technology, shortened breeding intervals, and increased selection accuracy, IVEP has attracted increasing attention for commercial use. The IVEP technique is well-established, but the embryo production rate has reached a plateau at 30–40%. Despite constant advances, the OPU/IVEP programs face some challenges that hinder the efficient application of the technique. Previous studies have shown that the quantity and quality of aspirated oocytes are essential factors for successful IVEP. This paper presents a brief overview of alternatives that can be employed to improve the process-seeking methods that assist in the recovery of better-quality oocytes and higher competence in OPU to improve embryo production. These strategies include using follicular wave synchronization prior to OPU, employing the influence of antral follicle populations, using the pre-OPU gonadotrophic stimulus and applying non-hormonal methods for selecting female donors.

The microbial degradation of plastics has been in boon from decades of its discovery; however, lacking fundamental knowledge and limited technological availability, it was a challenge to rationalize the finding to the field application. The naturally occurring microbes were found to be capable of degrading various types of plastics. The incandescence of technology has provided immense possibilities for developing solutions to combat alarming state of increased plastic wastes in the environment. The development of genomic technology allowed researchers to reveal the genes intricate in the microbial catabolic processes of plastic utilization. Recently, the biotechnological advancement is not limited up to the gene levels but the emerging synthetic biology has provided far more powerful approaches. This chapter includes the stages of microbial plastic degradation and the recent findings in synthetic biology that could help design strategies from the core of the catabolic processes construction and be brought together by engineering workflow.

This study compared the abilities of virgin heifer genomically enhanced breeding values (GEBV) and parent average breeding values (PA) to predict future cow performance. To increase confidence in genomic technology among farmers, a clear demonstration of the relationship between genomic predictions and future phenotypes is needed. We analyzed 12 different traits in first parity, including production, conformation, fer-tility, and other functional traits. Phenotype data were obtained from national milk recording schemes and breeding values from the Nordic Cattle Genetic Evalu-ation. Direct genomic breeding values were calculated using genomic BLUP and combined with traditional breeding values, using bivariate blending. The data covered 14,862 Red Dairy Cattle, 17,145 Holstein, and 7,330 Jersey genotyped virgin heifers born between 2013 and 2015 in Denmark, Finland, and Sweden. Phe-notypes adjusted for systematic environmental effects were used as measures of cow performance. Two meth-ods were used to compared virgin heifer GEBV and PA regarding their ability to predict future cow per-formance: (1) correlations between breeding values and adjusted phenotypes, (2) ranking cows into 4 quartiles for their virgin heifer GEBV or PA, and calculating actual cow performance for each quartile. We showed that virgin heifer GEBV predicted cow performance significantly better than PA for the vast majority of analyzed traits. The correlations with adjusted pheno-types were 38 to 136% higher for GEBV than for PA in Red Dairy Cattle, 42 to 194% higher for GEBV in Holstein, and 11 to 78% higher for GEBV in Jersey. The relative change between GEBV bottom and top quartiles compared with that between PA bottom and top quartiles ranged from 9 to 261% for RDC, 42 to 138% for Holstein, and 4 to 90% for Jersey. Hence, farmers in Denmark, Finland, and Sweden can have confidence in using genomic technology on their herds.

Infants who die within the first weeks to months of life may have genetic disorders, though many die without a confirmed diagnosis. Non-genetic conditions may also be responsible for unexplained infant deaths, and the diagnosis may be reliant upon studies performed in the peri-mortem period. Neonatologists, obstetricians, or pediatricians caring for these children and their families may be unsure of which investigations can and should be performed in the setting of a newborn or infant who is dying or has died. Recent advances in genomic sequencing technology may provide additional diagnostic options, though the interpretation of genetic variants discovered by this technique may be contingent upon clinical phenotype information that is obtained peri-mortem or upon autopsy. We have reviewed the current literature concerning the evaluation of an unexplained neonatal or infantile demise and synthesized a diagnostic approach, with a focus on the contribution of new and emerging genomic technologies.

We investigate the public preference heterogeneity of planting genetically improved poplar trees for biofuel production on public land in western Canada. Using a sample of the public from British Columbia, Alberta, Saskatchewan, and Manitoba, respondents were asked to vote in a series of hypothetical referenda comparing the new, proposed forest policies with the current policy (base scenario). Proposed policies varied based on poplar breeding method (traditional, genomics, or genetic modification) and whether poplars may be used for biofuel production. A respondents’ segmentation framework with cluster analysis and probit model was applied to data of respondents to uncover the heterogeneity of public’s perception. The results of this study reveal that positive and negative perceptions about planting genetically improved poplar trees in the region create a division of respondents into Environmentalists, Knowledgeable, Challengers, and Supporters. Respondents from British Columbia and Manitoba are identified as Environmentalists and Challengers, respectively, of the new policy of planting genetically improved poplar trees on public land. Conversely, respondents from Saskatchewan and Alberta are identified as Supporters and Knowledgeable, respectively, of the new policy. Refereed/Peer-reviewed

The new arena of crop improvement program requires next generation genomic technology in combination with a high throughput precised phenotyping. The aim and efforts of the research through unified molecular-morphological approach will be fulfilled only if they can be effectively employed in the cultivation process which ultimately would be positive to the beneficiaries. Development of competent and time saving tools for assessing the varying expression of agronomic traits of a crop and understanding its genetic background is a prerequisite. Recently, the commercially important beverage crop, tea (Camellia sinensis (L.) O. Kuntze), is of prime importance for its worthwhile health-benefit attributes. Although due to some inherited bottleneckness, several advanced genomics and phenomics technologies have already been utilized in tea for crop improvement program. Attempts have been made for its yield and quality trait associated marker development and next generation phenotyping considered to be the unique point of scientific interest. Moreover, definite selection of tea varieties with specific traits is being carried out for ensuring the premium tea products and brand by barcoding technology. This review summarises the concurrent advances of scientific research in tea improvement program as well as its prospects towards the production of superior cultivars and authenticity. Keywords: Crop improvement, Marker assisted selection, Next generation phenotyping, Tea, Varietal authentication

Background: Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine. Sources of data: Original papers, reviews, guidelines, policy papers and web-resources. Areas of agreement: An international consensus on the definition of genetic counselling. Genetic counselling is necessary for implementation of genomic medicine. Areas of controversy: Models of genetic counselling. Growing points: Genomic medicine is a growing and strategic priority for many health care systems. Genetic counselling is part of this. Areas timely for developing research: An evidence base is necessary, incorporating implementation and outcome research, to enable health care systems, practitioners, patients and families to maximize the utility (medically and psychologically) of the new genomic possibilities.

The advent of molecular biology has paved way for an era of personalized medicine. Though medical disciplines such as oncology and cardiology are advanced in their use of genomics, implementation has been slower in other specialties, such as orthopaedics. Recent advances in genomic technology have shed light on the underlying genetic basis of various pediatric orthopaedic disorders. Prior understanding of the genetic makeup of a patient may help individualize care in patients with conditions including idiopathic scoliosis, congenital talipes equinovarus and congenital limb deformities. The fastpaced growth of information in orthogenomics often makes it challenging for an orthopaedic surgeon to effectively use this information for patient care. Genetic characterization of a patient will help indicate risk of progression of a condition, recurrence and/or response to a treatment modality, and a collaborative approach between an orthopaedic surgeon and a geneticist can help tailor patient care. The following review article summarizes current understanding in molecular genomics of common pediatric orthopaedic disorders.

The increasing growth of genomic technology has created the potential for cures of previously untreatable diseases. CRISPR-Cas9 technology is a new gene editing tool discovered to have the ability ...

Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the gold standard for genetic counseling for these diseases. Yet, advances in genomic technology have produced an abundance of new information about the genetics of diseases such as Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. The resulting expansion of genetic tests together with the availability of direct-to-consumer testing and clinical trials for treatment of these diseases present new ethical and practical issues requiring modifications to the protocol for HD counseling and new demands on both physicians and genetic counselors. This work reviews the history of genetic counseling for neurodegenerative diseases, its current practice, and the future direction of genetic counseling for these conditions.