Results 21 to 30 of about 10,048,978 (405)
BMC Research Notes, 2020 Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti +8 more
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Frontiers in Genetics, 2021 There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang +1 more
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Using human genetics to understand the disease impacts of testosterone in men and women
Nature Network Boston, 2020 Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown.
K. Ruth +24 more
semanticscholar +1 more source
Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]
, 2020 Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu +2 more
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Frontiers in Cellular and Infection Microbiology, 2022 Despite meritorious attempts, a S. aureus vaccine that prevents infection or mitigates severity has not yet achieved efficacy endpoints in prospective, randomized clinical trials. This experience underscores the complexity of host-S. aureus interactions,
Tania Wong Fok Lung +10 more
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Human genetics and malaria resistance
Human Genetics, 2020 Malaria has been the pre-eminent cause of early mortality in many parts of the world throughout much of the last five thousand years and, as a result, it is the strongest force for selective pressure on the human genome yet described. Around one third of
S. Kariuki, T. Williams
semanticscholar +1 more source
Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
eLife, 2023 Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal +3 more
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Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
European Journal of Human Genetics, 2020 If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be
G. de Wert +17 more
semanticscholar +1 more source
Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum
Endocrinology, Diabetes & Metabolism, 2020 The causal role of abdominal overweight/obesity, insulin resistance and type 2 diabetes (T2D) on the risk of fatty liver disease (FLD) has robustly been proven.
Federica Tavaglione +3 more
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BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
Molecular Genetics & Genomic Medicine, 2021 Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek +16 more
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