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Introduction: X-linked retinitis pigmentosa (XLRP) is a rare, incurable, vision-threatening, genetic disease. In this study, we aimed to reveal the real-world burden of this disease from the viewpoint of retina specialists and geneticists involved directly in XLRP care and to identify unique insights that may not otherwise be available through typical clinical studies or health economic research. Methods: In this exploratory, cross-sectional study (EXPLORE XLRP-1), retina specialists (n = 20) and geneticists (n = 5) in France, Germany, Italy, Spain, and the UK provided anonymized insights on their experiences managing patients with XLRP (n = 80) via an online survey and 60-min telephone interview. Results: Survey respondents reported that patient independence decreased over time, where 37% of patients were considered "completely autonomous" at diagnosis versus 23% at the last consultation. At their last visit, 45% of patients were active in the workforce; 67% (12/18) of "completely autonomous" patients had active working status compared with 13% (1/8) of "completely dependent" patients. The average time from onset of symptoms to diagnosis was 4 years and varied among countries. In 78% of patients, XLRP was confirmed by genetic testing, the rate of which varied among countries (range, 50–94%), taking up to 6 months to receive results. Specialists identified unmet needs in XLRP management including more standardized assessments of quality of life (QoL) as well as easier and earlier access to specialists, genetic testing, patient support programs, and effective treatment options. Conclusions: The diagnosis, genetic testing, and management pathways among patients with XLRP can vary considerably. There is a need for more standardized diagnosis and management pathways, and QoL assessments, due to the major impact that XLRP has on patients' lives. [ABSTRACT FROM AUTHOR]

Background: Forest geneticists typically use provenances to account for population differences in their improvement schemes; however, the historical records of the imported materials might not be very precise or well-aligned with the genetic clusters derived from advanced molecular techniques. The main objective of this study was to assess the impact of marker-based population structure on genetic parameter estimates related to growth and wood properties and their trade-offs in Norway spruce, by either incorporating it as a fixed effect (model-B) or excluding it entirely from the analysis (model-A). Results: Our results indicate that models incorporating population structure significantly reduce estimates of additive genetic variance, resulting in substantial reduction of narrow-sense heritability. However, these models considerably improve prediction accuracies. This was particularly significant for growth and solid-wood properties, which showed to have the highest population genetic differentiation (QST) among the studied traits. Additionally, although the pattern of correlations remained similar across the models, their magnitude was slightly lower for models that included population structure as a fixed effect. This suggests that selection, consistently performed within populations, might be less affected by unfavourable genetic correlations compared to mass selection conducted without pedigree restrictions. Conclusion: We conclude that the results of models properly accounting for population structure are more accurate and less biased compared to those neglecting this effect. This might have practical implications for breeders and forest managers where, decisions based on imprecise selections can pose a high risk to economic efficiency. [ABSTRACT FROM AUTHOR]

A survey conducted among neurologists and clinical geneticists in Singapore found that the majority of respondents supported treatment for spinal muscular atrophy (SMA) patients under 2 years old with 2 or 3 SMN2 gene copies, with a preference for onasemnogene abeparvovec (OAV) over SMN2 gene modifiers. Treatment was also supported for patients older than 2 years with 2 to 3 SMN2 copies if they were not ventilated. The survey also revealed support for presymptomatic treatment and newborn screening, but the lack of a funding framework in Singapore hinders the implementation of these treatments. The text emphasizes the importance of considering factors such as disease severity, timing of therapy, and individual patient preferences in treatment decisions, and highlights the need for a structured funding framework to ensure equitable access to treatment for all patients. [Extracted from the article]

Background: Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products of conception, such features are not always present, especially at early stages of pregnancy. Furthermore, mosaic/chimeric pregnancies and twin pregnancies make pathological diagnosis challenging while trophoblastic tumours can also pose diagnostic problems in terms of their gestational or non-gestational origin. Objectives: The aim of this study was to show that ancillary genetic testing can be used to aid diagnosis and clinical management of GTD. Methods: Each author identified cases where genetic testing, including short tandem repeat (STR) genotyping, ploidy analysis, next-generation sequencing, and immunostaining for p57, the product of the imprinted gene CDKN1C, facilitated accurate diagnosis and improved patient management. Representative cases were chosen to illustrate the value of ancillary genetic testing in different scenarios. Outcome: Genetic analysis of placental tissue can aid in determining the risk of developing gestational trophoblastic neoplasia, facilitating discrimination between low risk triploid (partial) and high risk androgenetic (complete) moles, discriminating between a hydatidiform mole twinned with a normal conceptus and a triploid conception and identification of androgenetic/biparental diploid mosaicism/chimerism. STR genotyping of placental tissue and targeted gene sequencing of patients can identify women with an inherited predisposition to recurrent molar pregnancies. Genotyping can distinguish gestational from non-gestational trophoblastic tumours using tissue or circulating tumour DNA and can also identify the causative pregnancy which is the key prognostic factor for placental site and epithelioid trophoblastic tumours. Conclusions and Outlook: STR genotyping and p57 immunostaining have been invaluable to the management of gestational trophoblastic disease in many situations. The use of next-generation sequencing and of liquid biopsies is opening up new pathways for GTD diagnostics. Development of these techniques has the potential to identify novel biomarkers of GTD and further refine diagnosis. [ABSTRACT FROM AUTHOR]

The mapmixture R package and interactive web app are tools to aid visualisation of admixture and population structure in geographic space. The purpose of mapmixture is to enable and encourage molecular ecologists, and in particular population geneticists and phylogeneticists, to plot their admixture, ancestry or assignment results on a map when location information is available. mapmixture accepts data in the format typically generated by admixture analyses and visualises proportions to each genetic cluster per site as pie charts on a projected (optional) map. Combining this site‐based map presentation approach with the routine individual‐based presentation of admixture (structure) barplots will enhance interpretation of genetic‐geographic patterns. Additionally, in the context of science communication, this enables clearer transfer of spatial genetic information to readers or listeners, and especially to audiences that do not have a background in genetics but who are able to use the genetic information as evidence in conservation management. The latest version of mapmixture is available on GitHub (https://github.com/tom‐jenkins/mapmixture), which details installation instructions and examples of how to use the package and interactive web app. [ABSTRACT FROM AUTHOR]

The geneticist Thomas Dobzhansky famously declared: 'Nothing in biology makes sense except in the light of evolution'. A key evolutionary adaptation of Metazoa is directed movement, which has been elaborated into a spectacularly varied number of behaviours in animal clades. The mechanisms by which animal behaviours have evolved, however, remain unresolved. This is due, in part, to the indirect control of behaviour by the genome, which provides the components for both building and operating the brain circuits that generate behaviour. These brain circuits are adapted to respond flexibly to environmental contingencies and physiological needs and can change as a function of experience. The resulting plasticity of behavioural expression makes it difficult to characterize homologous elements of behaviour and to track their evolution. Here, we evaluate progress in identifying the genetic substrates of behavioural evolution and suggest that examining adaptive changes in neuromodulatory signalling may be a particularly productive focus for future studies. We propose that the behavioural sequences used by ecdysozoans to moult are an attractive model for studying the role of neuromodulation in behavioural evolution. [ABSTRACT FROM AUTHOR]

The use of artificial intelligence (AI) for facial diagnostics is increasingly used in the genetics clinic to evaluate patients with potential genetic conditions. Current approaches focus on one type of AI called Deep Learning (DL). While DL- based facial diagnostic platforms have a high accuracy rate for many conditions, less is understood about how this technology assesses and classifies (categorizes) images, and how this compares to humans. To compare human and computer attention, we performed eye-tracking analyses of geneticist clinicians (n = 22) and non-clinicians (n = 22) who viewed images of people with 10 different genetic conditions, as well as images of unaffected individuals. We calculated the Intersection-over-Union (IoU) and Kullback–Leibler divergence (KL) to compare the visual attentions of the two participant groups, and then the clinician group against the saliency maps of our deep learning classifier. We found that human visual attention differs greatly from DL model's saliency results. Averaging over all the test images, IoU and KL metric for the successful (accurate) clinician visual attentions versus the saliency maps were 0.15 and 11.15, respectively. Individuals also tend to have a specific pattern of image inspection, and clinicians demonstrate different visual attention patterns than non-clinicians (IoU and KL of clinicians versus non-clinicians were 0.47 and 2.73, respectively). This study shows that humans (at different levels of expertise) and computer vision model examine images differently. Understanding these differences can improve the design and use of AI tools, and lead to more meaningful interactions between clinicians and AI technologies. Author summary: Artificial intelligence (AI) is increasingly used in medicine. In clinical practice, medical geneticists often use AI tools to help them examine the facial features of a patient who might have a genetic condition. While these tools are very popular, less is understood about how they work, and which parts of the face are most important to the AI tools, especially compared to medical geneticists. To address this, we performed a study where medical geneticists (as well as non-clinicians) looked at pictures of people with and without genetic conditions. We used eye-tracking tools to visualize which parts of the images the medical geneticists preferentially looked at. We compared this to the parts of the image that were the most important to the AI tools. We found that the medical geneticists and the AI tools tended to pay attention to very different features. We also found that medical geneticists and non-clinicians look at different parts of the images. Understanding how AI tools examine images compared to clinicians can help ensure the tools function properly, and could also help perform tasks like alerting medical geneticists to important clinical findings that could otherwise be overlooked. [ABSTRACT FROM AUTHOR]

Over the past two decades, human geneticists have substantially embraced the concept of "biogeographical ancestry" to account for the racial, ethnic, and linguistic categories they use to analyze and interpret genetic difference. Understanding the ongoing role of these categories in human genetic research therefore requires attention to geneticists' representations of geography, particularly the geographic maps they use to illustrate gene distribution and migration. This article examines how the methods and imagery of international genetic geography and its major evolutionary narratives have reinforced or refashioned nationalist practices of geography in the Middle East. Geneticists simultaneously conceptualize the region's physical space as both a historical "crossroads" of human migration and the birthplace of distinct gene sequences and civilizations, alternately blurring and sharpening the boundaries between Europe and Asia. Focusing on genetic research in Turkey and Iran, this paper analyzes how geneticists draw and interpret geographic maps of the region while selectively erasing or highlighting state borders. These genetic maps negotiate between the idealized aims of international projects to reconstruct human evolutionary history, and the reality of practicing science under the constraints of nationstate politics. [ABSTRACT FROM AUTHOR]

In 1913, the geneticist William Bateson called for a halt in studies of genetic phenomena until evolutionary fundamentals had been sufficiently addressed at the molecular level. Nevertheless, in the 1960s, the theoretical population geneticists celebrated a "modern synthesis" of the teachings of Mendel and Darwin, with an exclusive role for natural selection in speciation. This was supported, albeit with minor reservations, by historians Mark Adams and William Provine, who taught it to generations of students. In subsequent decades, doubts were raised by molecular biologists and, despite the deep influence of various mentors, Adams and Provine noted serious anomalies and began to question traditional "just-so-stories." They were joined in challenging the genetic orthodoxy by a scientist-historian, Donald Forsdyke, who suggested that a "collective variation" postulated by Darwin's young research associate, George Romanes, and a mysterious "residue" postulated by Bateson, might relate to differences in short runs of DNA bases (oligonucleotides). The dispute between a small network of historians and a large network of geneticists can be understood in the context of national politics. Contrasts are drawn between democracies, where capturing the narrative makes reversal difficult, and dictatorships, where overthrow of a supportive dictator can result in rapid reversal. [ABSTRACT FROM AUTHOR]

The inheritance of racing performance in Thoroughbreds is of interest to breeders and geneticists. Therefore, the genetic parameters of racing performance have been investigated in various populations of Thoroughbreds. However, the predictability of the racing performance of a racehorse has not been assessed well. In this study, we built mixed‐effects models for Japanese Thoroughbreds and assessed their predictability of racing performance. We used the average velocity as an index of racing performance and treated each category of racecourse and distance as different traits. Model selection using the deviance information criterion showed that explanatory variables, such as race, age and jockey effects are important for racing performance. Using the selected models, the phenotypic values of horses born after 2009, adjusted using the entire dataset, were predicted with the breeding values estimated from a partial dataset until 2010. The correlation coefficients ranged from 0.000 to 0.235 (average of 0.084 ± 0.066) and were higher for longer distances. When predicting the graded race winners born after 2009 from the partial dataset until 2010, the area under the curve values ranged from 0.516 to 0.776 (average of 0.613 ± 0.073) and were also higher for longer distances. Although these results indicate the predictability of racing performance, further efforts, including exploring more suitable racing performance indices and refining statistical modelling, are required for improvement. [ABSTRACT FROM AUTHOR]

Extremist far-right ideologies, including scientifically inaccurate beliefs about race, are on the rise (Mieriņa and Koroļeva 2015; Youngblood 2020); individuals perpetuating such ideologies occasionally cite genetics research, including behavioral genetics research. This highlights the need for behavioral geneticists to actively confront extremist ideology and promote anti-racism. We emphasize the need for Diversity, Equity and Inclusion (DEI) committees within behavioral genetics institutions. DEI committees can lead to: greater awareness of ways in which behavioral genetics has been misused (historically and currently) to harm minoritized communities, increased discussions on conducting ethical behavioral genetics research, and increased collaboration for conducting more diverse behavioral genetics research. We discuss the activities and goals of the student-driven DEI committee at the Institute for Behavior Genetics (IBG). At the same time, we acknowledge we have a long way to go, both as a committee and as a field. Our committee is still in its early stages; we discuss challenges to increasing DEI in the field and present future goals for both IBG and the behavioral genetics community as we explore the process of implementing DEI work. [ABSTRACT FROM AUTHOR]

The exponential increase in the availability of genomic data, derived from sequencing thousands of loci or whole genomes, provides exciting new insights into the diversity of life. However, it can also challenge established species concepts and existing management regimes derived from these concepts. Genomic data can help inform decisions about how to manage genetic diversity, but policies that protect identified taxonomic entities can generate conflicting recommendations that create challenges for practitioners. We outline three dimensions of management concern that arise when facing new and potentially conflicting interpretations of genomic data: defining conservation entities, deciding how to manage diversity, and evaluating the risks and benefits of management actions. We highlight the often-underappreciated role of values in influencing management choices made by individuals, scientists, practitioners, the public, and other stakeholders. Such values influence choices through mechanisms such as the Rashomon effect, whereby management decisions are complicated by conflicting perceptions of the causes and consequences of the conservation problem. To illustrate how this might operate, we offer a hypothetical example of this effect for the interpretation of genomic data and its implications for conservation management. Such value-based decisions can be challenged by the rigidity of existing management regimes, making it difficult to achieve the necessary flexibility to match the changing biological understanding. We finish by recommending that both conservation geneticists and practitioners reflect on their respective values, responsibilities, and roles in building a more robust system of species management. This includes embracing the inclusion of stakeholders in decision-making because, as in many cases, there are not objectively defensible right or wrong decisions. [ABSTRACT FROM AUTHOR]

Forensic DNA Phenotyping (FDP) is a set of techniques that aim to infer externally visible characteristics in humans – such as eye, hair and skin color – and biogeographical ancestry of an unknown person, based on biological material. FDP has been applied in various jurisdictions in a limited number of high-profile cases to provide intelligence for criminal investigations. There are on-going controversies about the reliability and validity of FDP, which come together with debates about the ethical challenges emerging from the use of this technology in the criminal justice system. Our study explores how, in the context of complex politics of legitimation of and contestation over the use of FDP, forensic geneticists in Europe perceive this technology's potential applications, utility and risks. Forensic geneticists perform several forms of discursive boundary work, making distinctions between science and the criminal justice system, experts and non-experts, and good and bad science. Such forms of boundary work reconstruct the complex positioning vis-à-vis legal and scientific realities. In particular, while mobilizing interest in FDP, forensic geneticists simultaneously carve out notions of risk, accountability and scientific conduct that perform distance from FDP' implications in the criminal justice system. [ABSTRACT FROM AUTHOR]

Summary: Gene duplication is a powerful source of biological innovation giving rise to paralogous genes that undergo diverse fates. Redundancy between paralogous genes is an intriguing outcome of duplicate gene evolution, and its maintenance over evolutionary time has long been considered a paradox. Redundancy can also be dubbed 'a geneticist's nightmare': It hinders the predictability of genome editing outcomes and limits our ability to link genotypes to phenotypes. Genetic studies in yeast and plants have suggested that the ability of ancient redundant duplicates to compensate for dosage perturbations resulting from a loss of function depends on the reprogramming of gene expression, a phenomenon known as active compensation. Starting from considerations on the stoichiometric constraints that drive the evolutionary stability of redundancy, this review aims to provide insights into the mechanisms of active compensation between duplicates that could be targeted for breaking paralog dependencies – the next frontier in plant functional studies. [ABSTRACT FROM AUTHOR]

Heading date, plant height, and spike-related phenotypes are key traits that affect the yield potential and adaptation of barley to Mediterranean environments. These traits are controlled by a complex network of genes as well as environmental effects. Marker-trait associations (MTAs) were performed using a set of 361 barley genotypes, evaluated phenotypically for three years under semi-arid conditions. In total, 24 MTAs were detected using the recently developed GWAS method (BLINK) at –log p ≥ 5. These included one MTA with awn length (Awl) on chromosome 2H; twelve MTAs with heading date (HD) distributed over all chromosomes except 4H; three MTAs with grains per spike (GPS) on chromosomes 1H, 2H, and 6H; six MTAs were detected for plant height (PH) on 2H (2), 3H, 4H, 6H, and 7H; and two MTAs with spike length (SL) on 3H and 7H. The results showed novel and known associations between specific SNP markers and heading date, plant height, and spike-related traits, suggesting that these markers can be used in breeding programs to improve these traits in barley. This study provides valuable information for breeders and geneticists working to develop new barley varieties that are better adapted to semi-arid climates and have improved yield and quality characteristics. [ABSTRACT FROM AUTHOR]

Reference genomes facilitate trait improvement by aiding in the elucidation of causal genetic elements. Thanks to the recent release of a reference sequence for the faba bean, breeders and geneticists are poised to accelerate precision breeding and genetic improvement of this important crop. [ABSTRACT FROM AUTHOR]

Background: Preimplantation genetic testing (PGT) is used to identify a pathogenic variant in embryos created through in vitro fertilization. A "variant of uncertain significance" (VOUS) is a genetic variant discovered through genetic testing but with unknown clinical significance. The primary goal is to gauge geneticists' perspectives on performing PGT-M for VOUS in Saudi Arabia, which results in the development of recommendations from higher authorities regarding the criteria of PGT-M in clinical practice. Methods: After reviewing the literature, a cross-sectional study was conducted employing questionnaire developed using survey monkey. The reliability of the questionnaire was assessed in terms of internal consistency and Cronbach's alpha-assessed test-retest. Results: In particular, a total of 96 Saudis and non-Saudis, male and female geneticists, agreed to participate in the study. Out of the 96 geneticists, 56 (59.6%) were female. Most participants were of Saudi origin, with a percentage of (76.6%). The most important finding of this study is that 64% of geneticists opposed performing PGT-M for VOUS. The outcome that 94.5% of geneticists concurred that PGT-M is poorly understood was another noteworthy finding. Conclusion: Future research with a larger sample size is required for performing PGT-M for VOUS, which will help in developing guidelines for PGT-M in Saudi Arabia. [JBCGenetics 2023; 6(1.000): 36-40]

This review is about my clinical and research journey in hand surgery. The journey has been a worthwhile and meaningful one, especially when I felt there were areas I could influence management, whether this be rare cases, common conditions or where a suggested algorithm may be helpful. I also had the unique privilege of working with geneticists, which has resulted in clinical-pathological publications that could influence patient management, as shared from a clinician's perspective. It is hoped this article will inspire young clinician scientists to pursue a journey of collaboration with other researchers. [ABSTRACT FROM AUTHOR]

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Copyright of Philosophy & History of Biology / Filosofia e História da Biologia is the property of Associacao Brasileira de Filosofia e Historia da Biologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Last year marked the 100th year since the beginning of the research career of the brilliant geneticist and radiobiologist, Nikolay Timofeeff-Ressovsky. In 1934, Timofeeff-Ressovsky published an article in which he not only used the term "genetic engineering" for the first time, but also laid the physical foundation for its future development. It is important to highlight the groundbreaking achievement of Timofeeff-Ressovsky in 1935, as he was the first to estimate the physical size of a gene to be 1 μm. This measurement is equivalent to ∼1,000,000 base pairs of DNA, which was an unimaginable prediction in the pregenomic era. In this communication, we uncover the exciting story of Timofeeff-Ressovsky's physical approach to the foundation of genetic engineering. [ABSTRACT FROM AUTHOR]

Geoscientists and ecologists alike must confront the impact of climate change on ecosystems and the services they provide. In the marine realm, major changes are projected in net primary and export production, with significant repercussions on food security, carbon storage, and climate system feedbacks. However, these projections do not include the potential for rapid linear evolution to facilitate adaptation to environmental change. Climate genomics confronts this challenge by assessing the vulnerability of ecosystem services to climate change. Because DNA is the primary biological repository of detectable environmentally selected mutations (showing evidence of change before impacts arise in morphological or metabolic patterns), genomics provides a window into selection in response to climate change, while also recording neutral processes deriving from stochastic mechanisms (Lowe et al., Trends in Ecology & Evolution, 2017; 32:141–152). Due to the revolution afforded by sequencing technology developments, genomics can now meet ecologists and climate scientists in a cross‐disciplinary space fertile for collaborations. Collaboration between geoscientists, ecologists, and geneticists must be reinforced in order to combine modeling and genomics approaches at every scale to improve our understanding and the management of ecosystems under climate change. To this end, we present advances in climate genomics from plankton to larger vertebrates, stressing the interactions between modeling and genomics, and identifying future work needed to develop and expand the field of climate genomics. [ABSTRACT FROM AUTHOR]

The study of quorum sensing, bacterial cell‐to‐cell communication mediated by the production and detection of small molecule signals, has skyrocketed since its discovery in the last third of the 20th century. Building from early investigations of bacterial bioluminescence, the process has been characterized to control a numerous and growing number of group behaviors, including virulence and biofilm formation. Bonnie Bassler has made key contributions to the understanding of quorum sensing, leading interdisciplinary efforts to characterize key signaling pathway components and their respective signaling molecules across a range of gram‐negative bacteria. This review highlights her work in the field, with a particular emphasis on the chemical contributions of her work. [ABSTRACT FROM AUTHOR]

Although images of science and scientists depicted in popular culture have been criticized as an exaggeration and fear mongering, the cinema is an important resource that influences individuals' beliefs about science. Because popular depictions of science play a crucial role in constructing the public's 'scientific imaginary' they constitute an inherent dimension of the social understanding of science and are as important for science communication as the 'real' science. Fictional filmic representations of geneticists portrayed in 145 films reveal that popular culture (re)constructs common images and stereotypes of scientists. While the most prevalent negative stereotypes depicted in films include: the evil demiurge, the egoist without morals, the nerdy geneticist, and the capitalist who betrays the ethos of science, over the last few decades films tend to construct more positive images of geneticists: the objective researcher, the practical expert, the bioethicist, the caring physician and the dedicated idealist. Additionally, although molecular biology depicted in films largely represents a man's world, especially since the 1990s, the figure of the woman geneticist is on the rise. The coexistence of multiple representations of geneticists in films demonstrate that cinematic images of geneticists constitute an important narrative tool that helps moviemakers in reconstructing the social promises and perils related to biotechnology. Thus, films should be understood as a site for the examination of how popular culture fuels hopes and anxieties related to the scientific revolution that permeate culture and how these hopes and fears change over time from horror to hope and from fiction to reality. [ABSTRACT FROM AUTHOR]

Incidental findings (IFs) are unexpected disclosures that do not fall within the aim of a test and have a potential impact on an individual's life. In the forensic field, IFs can be considered information that is not related to the cause of death, the dynamic of the event, or the scope of the investigation. Questions regarding how forensic professionals should consider, address, and report IFs form the focus of our study. This narrative review was performing following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines with the aim of defining and summarizing evidence about IFs, analyzing their ethical and legal management, and emphasizing the importance of adequate informed consent. The current state of the art regarding IFs has revealed the need for guidelines with the purpose of making the best decisions for the parties involved since the circumstances are extremely delicate, and therefore, forensic geneticists require protection and support. For this reason, elaboration of informed consent, which considers the possibility of making accidental discoveries, could operate as an immediate solution to fill the current gaps. However, the development of clear international recommendations is the best solution to such a complex issue. [ABSTRACT FROM AUTHOR]

Research over the past three decades has shown that ecology-based extrinsic reproductive barriers can rapidly arise to generate incipient species—but such barriers can also rapidly dissolve when environments change, resulting in incipient species collapse. Understanding the evolution of unconditional, "intrinsic" reproductive barriers is therefore important for understanding the longer-term buildup of biodiversity. In this article, we consider ecology's role in the evolution of intrinsic reproductive isolation. We suggest that this topic has fallen into a gap between disciplines: while evolutionary ecologists have traditionally focused on the rapid evolution of extrinsic isolation between co-occurring ecotypes, speciation geneticists studying intrinsic isolation in other taxa have devoted little attention to the ecological context in which it evolves. We argue that for evolutionary ecology to close this gap, the field will have to expand its focus beyond rapid adaptation and its traditional model systems. Synthesizing data from several subfields, we present circumstantial evidence for and against different forms of ecological adaptation as promoters of intrinsic isolation and discuss alternative forces that may be significant. We conclude by outlining complementary approaches that can better address the role of ecology in the evolution of nonephemeral reproductive barriers and, by extension, less ephemeral species. [ABSTRACT FROM AUTHOR]

The first department of genetics (initially genetics and experimental zoology) in Russia was established in 1919 by Prof. Yu.A. Filipchenko. This department took its first steps as part of the global scientific community, which was facilitated by close contacts between leading geneticists who are now recognized as classic figures in the field: T.H. Morgan, Yu.A. Filipchenko, N.I. Vavilov, W. Bateson, G.A. Levitsky, G.D. Karpechenko, F.G. Dobzhansky, H.J. Muller, M.E. Lobashev, and others. The modern scientific and educational activities of the department are predetermined by its previous history, and the department's staff is continuing to develop the traditions of the educational and scientific complex, in which teaching is inseparable from research within the general problem of mechanisms of integration of genetic processes. The formulation of a broad problem allows one to counter centrifugal tendencies that can be caused by the differentiation of interests and specific tasks of researchers, which, in turn, poses a danger of narrowing down the training of specialists. The formulation of a unifying problem is traditional for the department, and it maintains the foundation of mutual understanding among different genetic specialists, and also emphasizes the perception of genetics as one of the most important general biological disciplines. [ABSTRACT FROM AUTHOR]

Background: Syngnathids are a highly derived and diverse fish clade comprising the pipefishes, pipe‐horses, and seahorses. They are characterized by a plethora of iconic traits that increasingly capture the attention of biologists, including geneticists, ecologists, and developmental biologists. The current understanding of the origins of their derived body plan is, however, hampered by incomplete and limited descriptions of the early syngnathid ontogeny. Results: We provide a comprehensive description of the development of Nerophis ophidion, Syngnathus typhle, and Hippocampus erectus from early cleavage stages to release from the male brooding organ and beyond, including juvenile development. We comparatively describe skeletogenesis with a particular focus on dermal bony plates, the snout‐like jaw morphology, and appendages. Conclusions: This most comprehensive and detailed account of syngnathid development to date suggests that convergent phenotypes (e.g., reduction and loss of the caudal fins), likely arose by distinct ontogenetic means in pipefishes and seahorses. Comparison of the ontogenetic trajectories of S. typhle and H. erectus provides indications that characteristic features of the seahorse body plan result from developmental truncation. Altogether, this work provides a valuable resource and framework for future research to understand the evolution of the outlandish syngnathid morphology from a developmental perspective. Key Findings: This study provides a comprehensive description of syngnathid (pipefishes & seahorses) development and skeletogenesis, highlighting how and when iconic features arise during the early ontogeny and across representatives of three main clades of this fish family.By comparatively analyzing the development of skeletal elements contributing to many of these fishes' most iconic features, such as their snout‐like facial morphology, the absence of certain fins and the bony plate armor, we identify key stages, structures, and suggest evolutionary mechanisms driving their unique ontogenetic trajectories.We find that several iconic syngnathid traits are the result of developmental truncation, leading to neotenic features or even feature loss, and we conclude that developmental heterochrony likely played a central role in establishing the diversity found among many morphological traits across and within syngnathid species. [ABSTRACT FROM AUTHOR]

“Enhancing the Wild” in itself is a contradiction. Our ocean is filled with ecosystems delicately balanced by a global interconnection that any outside intervention is bound to alter.Enhancement programs aim to target the impacts of natural and anthropogenic influences on wild fish stocks in hopes of increasing recreationally and commercially important species. However, many are lacking in adequate research and have the potential of throwing these ecosystems off-balance. Management by collaborating stakeholders taking a precautionary approach to minimize adverse effects on the environment and economy while also working with the best available science is how these programs will be most effective.The Hubbs-Seaworld Research Institute (HSWRI) Ocean Resources Enhancement and Hatchery Program (OREHP) located in Carlsbad, California is on the cutting edge of such initiatives. Though despite 30 years of valuable research and experience as well as 40 million dollars worth of funding to date, less than one percent of OREHP white sea bass has contributed to the wild population. Now, with stakeholders finally able to express their opinions across the same platform, a conversation about not only how we can effectively spawn, rear, and release white seabass into the wild, but if we can may take place

While the prevalence of genetic disorders has been well documented in the Muslim-majority, low-socioeconomic country of Pakistan, the provision of medical genetic services remains limited and cost-prohibitive to the masses in the country. With the objective of identifying gaps in the provision of medical genetics services as perceived by the healthcare providers and the general public, the Pakistani Society of Medical Genetics and Genomics (PSMG) organized a needs assessment webinar on December 6, 2020, titled, "A Vibrant Discussion on the Current Status and Future Needs of Medical Genetic Services in Pakistan." The objectives of the webinar were (1) to explore the current availability of medical genetics services, (2) to identify areas in clinical genetics delivery models needed to improve the state of medical genetics in the country, and (3) to garner the interest in such provisions from the expert and lay audience. The webinar consisted of a moderator-led, structured interview of an expert panel including the following topics: (1) postgraduate clinical genetics and genetic counseling training programs, (2) medical genetics clinics and formal genetic counseling services), (3) clinical genetic testing and (4) patient support and advocacy groups. The webinar was followed by a short, web-based survey completed by 35 of the 60 attendees. The results of this survey indicated overwhelming support for establishing formal genetic counseling educational opportunities (91.6%) and increasing the availability of genetic testing (100%). This report further summarizes the opinions and recommendations of the panelists and the audience survey results. [ABSTRACT FROM AUTHOR]

Next‐generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting single‐nucleotide variations and small insertions/deletions, bioinformatics tools can identify copy number variations (CNVs) in NGS data, which improves the diagnostic yield. However, due to the possibility of false positives, subsequent confirmation tests are generally performed. Here, we introduce Copy‐number Analysis by BAse‐level NormAlization (CABANA), a visualization tool that allows users to intuitively identify candidate CNVs using the normalized single‐base‐level read depth calculated from NGS data. To demonstrate how CABANA works, NGS data were obtained from 474 patients with neuromuscular disorders. CNVs were screened using a conventional bioinformatics tool, ExomeDepth, and then we normalized and visualized those data at the single‐base level using CABANA, followed by manual inspection by geneticists to filter out false positives and determine candidate CNVs. In doing so, we identified 31 candidate CNVs (7%) in 474 patients and subsequently confirmed all of them to be true using multiplex ligation‐dependent probe amplification. The performance of CABANA was deemed acceptable by comparing its diagnostic yield with previous data about neuromuscular disorders. Despite some limitations, we expect CABANA to help researchers accurately identify CNVs and reduce the need for subsequent confirmation testing. [ABSTRACT FROM AUTHOR]

The critique of the genetics of complex social outcomes is partly well-founded, insofar as social outcomes sometimes have unreliable relations with cognitive traits. But the correct conclusion is not to dismiss the entire field altogether. Rather, the implication is to redirect geneticists' attention to the stable cognitive phenotypes that are natural candidates for genetic analysis. [ABSTRACT FROM AUTHOR]

Burt's argument relies on a motte-and-bailey fallacy. Burt aims to argue against the value of genetics for social science; instead she argues against certain interpretations of a specific kind of genetics tool, polygenic scores (PGSs). The limitations, previously identified by behavioural geneticists including ourselves, do not negate the value of PGSs, let alone genetics in general, for social science. [ABSTRACT FROM AUTHOR]

Evidence of a causal role for genes in human behavior underpins genetic essentialism, the scientifically flawed and socially hazardous idea that heritable characteristics are immutable. Behavior geneticists can challenge this idea by designing research that brings the contextual dependence of heritability estimates into sharper focus, and by incorporating a relevant statement into research reports and public outreach. [ABSTRACT FROM AUTHOR]

The present paper tackles the issue of scientifically reconstructing past identities from remains of bodies by putting together the pieces and developing them into narratives of a unified entity. It is the area explored by forensics and the experts specialized in the field-anthropologists, archaeologists, linguists, pathologists or geneticists - in detective/crime fiction, thus demonstrating how justice can be done by using an interdisciplinary approach. [ABSTRACT FROM AUTHOR]

Genetic diversity is a prerequisite for evolutionary change in all kinds of organisms. It is generally acknowledged that populations lacking genetic variation are unable to evolve in response to new environmental conditions (e.g., climate change) and thus may face an increased risk of extinction. Although the importance of incorporating genetic diversity into the design of conservation measures is now well understood, less attention has been paid to the distinction between neutral (NGV) and adaptive (AGV) genetic variation. In this review, we first focus on the utility of NGV by examining the ways to quantify it, reviewing applications of NGV to infer ecological and evolutionary processes, and by exploring its utility in designing conservation measures for plant populations and species. Against this background, we then summarize the ways to identify and estimate AGV and discuss its potential use in plant conservation. After comparing NGV and AGV and considering their pros and cons in a conservation context, we conclude that there is an urgent need for a better understanding of AGV and its role in climate change adaptation. To date, however, there are only a few AGV studies on non-model plant species aimed at deciphering the genetic and genomic basis of complex trait variation. Therefore, conservation researchers and practitioners should keep utilizing NGV to develop relevant strategies for rare and endangered plant species until more estimates of AGV are available.

Comparing, sharing, and shielding children's biological and biographical data in genetic databases and on Facebook are central moves when geneticists and families search for diagnoses for children with rare diseases. Based on ethnographic fieldwork in Denmark, we show that the work of linking children carrying the same genetic mutations forges new sibling‐like forms of relatedness between them. With the concept of 'datasociality', we add new layers to 'biosociality' by capturing the ways in which biological information is increasingly mediated by digital and algorithmic processes in the genomic era. In the process of both sharing data and securing anonymity, unrelated children become related through qualities of otherness. [ABSTRACT FROM AUTHOR]

In Fall 1939, as war engulfed Europe, the author of one of the most influential texts on genetics and evolution, Theodosius Dobzhansky, wrote a letter to curator of insects at the United States National Museum, Edward Albert Chapin. Dobzhansky wished to know what Chapin thought about his pursuing some taxonomic work on an old fascination of his: lady-bird beetles. This paper examines the resulting correspondence as a window into Dobzhansky's attitude toward taxonomy, the different pressures on geneticists and taxonomists when wrestling with how to name species, the relation between biological theory and taxonomic practice, and how claims regarding human races may have motivated Dobzhansky's continued interest in the work of beetle taxonomists. In doing so, this article builds on the work of Paul Farber and others to highlight the importance of including museums, taxonomy, and the naturalist tradition within the history of twentieth-century biology. [ABSTRACT FROM AUTHOR]

Sixty years ago, the geneticist James Neel proposed that the epidemics of obesity and diabetes today may have evolutionary roots. Specifically, he suggested that our ancestors may have accumulated mutations during periods of famine that provided a survival advantage at that time. However, the presence of this "thrifty genotype" in today's world, where food is plentiful, would predispose us to obesity and diabetes. The "thrifty gene" hypothesis, attractive to some, has been challenged over the years. The authors have previously postulated that the loss of the uricase gene, resulting in a rise in serum and intracellular uric acid levels, satisfies the criteria of a thrifty genotype mutation. This paper reviews and brings up-to-date the evidence supporting the hypothesis and discusses the current arguments that challenge this hypothesis. Although further studies are needed to test the hypothesis, the evidence supporting a loss of uricase as a thrifty gene is substantial and supports a role for evolutionary biology in the pathogenesis of the current obesity and diabetes epidemics. [ABSTRACT FROM AUTHOR]

Background: The concept of lip prints is clear from previous literature review that this evidence can be used for forensic purpose. While accepting that a body of data existed regarding the individuality of lip pattern, there is no credible research on the stability of the lip detail over time. The timescale in question could be measured in weeks and months or years. The former would be used in police investigations and the latter can be used by geneticist. [ABSTRACT FROM AUTHOR]

Forensic genetics comes under critical scrutiny when developments challenge previously accepted legal, ethical, social, and other boundaries. Forensic geneticists continue to build a knowledge culture within a community of practice that acknowledges ethical standards of conduct in both research and the societal application of forensic genetics. As the community further cements and extends its societal role, and in that process often pushing at ethical and legal boundaries, it requires a strong, resilient, and responsive ethos that, in setting clear parameters for conduct, fosters the field's sense of purpose. While supra-national declarations and human rights protections, coupled with local regulations, provide some parameters for practice, and discipline-specific guidance has refined an agenda for forensic genetics research and application, this maturing field needs to now define its core principles. This contribution proposes the values of integrity, trustworthiness, and effectiveness as a foundational triptych for a bespoke forensic genetics ethos to ensure the augmentation of developments that range from a purely science-oriented to a wider societally relevant knowledge culture. [ABSTRACT FROM AUTHOR]

Motivation Kinship estimation is necessary for evaluating violations of assumptions or testing certain hypotheses in many population genomic studies. However, kinship estimators are usually designed for diploid systems and cannot be used in populations with mixed haploid diploid genetic systems. The only estimators for different ploidies require datasets free of population structure, limiting their usage. Results We present KIMGENS (Kinship Inference for Mixed GENetic Systems), an estimator for kinship estimation among individuals of various ploidies, that is robust to population structure. This estimator is based on the popular KING-robust estimator but uses diploid relatives of the individuals of interest as references of heterozygosity and extends its use to haploid–diploid and haploid pairs of individuals. We demonstrate that KIMGENS estimates kinship more accurately than previously developed estimators in simulated panmictic, structured and admixed populations, but has lower accuracy when the individual of interest is inbred. KIMGENS also outperforms other estimators in a honeybee dataset. Therefore, KIMGENS is a valuable addition to a population geneticist's toolbox. Availability and implementation KIMGENS and its association simulation tool are implemented and available open-source at https://github.com/YenWenWang/HapDipKinship. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]