Results 1 to 10 of about 10,524,108 (363)
A brief history of human disease genetics
Nature, 2020 A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease.
Charles Rotimi +2 more
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Genetics of circadian rhythms and sleep in human health and disease
Nature Reviews Genetics, 2022 Circadian rhythms and sleep are fundamental biological processes integral to human health. Their disruption is associated with detrimental physiological consequences, including cognitive, metabolic, cardiovascular and immunological dysfunctions. Yet many
Jacqueline M Lane +2 more
exaly +2 more sources
Environment dominates over host genetics in shaping human gut microbiota
Nature, 2018 Maya Lotan-Pompan +2 more
exaly +2 more sources
A sequence-based global map of regulatory activity for deciphering human genetics
Nature Genetics, 2021 Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we still lack a systematic mapping from any sequence or variant to regulatory activities.
Kathleen M. Chen +3 more
semanticscholar +1 more source
Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, 2021 Through seven decades the inverse association between HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease (ASCVD) has been observed in case-control and prospective cohort studies.
E. W. Kjeldsen +2 more
semanticscholar +1 more source
Scientific Reports, 2021 SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker +5 more
doaj +1 more source
Human genetics and its impact on cardiovascular disease.
Journal of Cardiology, 2021 Cardiovascular disease (CVD) is a major cause of death worldwide. Given that CVD is a highly heritable trait, researchers have attempted to fully understand the genetic basis of CVD for a long time. The human genome comprises 3,100 Mbp per haploid genome
H. Tada +4 more
semanticscholar +1 more source
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
doaj +1 more source
Scientific Reports, 2021 Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein +8 more
doaj +1 more source
BMC Neurology, 2022 Background Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest.
Andy Devereux-Cooke +27 more
doaj +1 more source