Results 11 to 20 of about 1,631,641 (306)
Mutation saturation for fitness effects at human CpG sites
eLife, 2021 Whole exome sequences have now been collected for millions of humans, with the related goals of identifying pathogenic mutations in patients and establishing reference repositories of data from unaffected individuals.
Ipsita Agarwal, Molly Przeworski
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eLife, 2022 Physical inactivity and increased sedentary time are associated with excess weight gain in observational studies. However, some longitudinal studies indicate reverse causality where weight gain leads to physical inactivity and increased sedentary time ...
Germán D Carrasquilla +4 more
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Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]
Journal of Clinical and Diagnostic Research, 2020 Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina +7 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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HGG Advances, 2023 Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo +15 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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Quantitative genetics of disease traits [PDF]
, 2015 John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich,
Visscher, P. M., Wray, N. R.
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Stem Cell Research, 2017 The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann +9 more
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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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Misinformation, Misrepresentation, and Misuse of Human Behavioral Genetics Research [PDF]
, 2006 Kaplan discusses the limitations of human behavioral genetics studies, highlighting the research limitations inherent in studying humans and the narrow policy and legal applicability of results arising from behavioral genetics ...
Bergman, Karl-Olof +2 more
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