From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
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 …
biomedical traits, particularly those related to the onset and progression of human disease …
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE …
Clinical review on triglycerides
Hypertriglyceridaemia is a common clinical problem. Epidemiologic and genetic studies
have established that triglyceride-rich lipoproteins (TRL) and their remnants as important …
have established that triglyceride-rich lipoproteins (TRL) and their remnants as important …
[HTML][HTML] The missing diversity in human genetic studies
The majority of studies of genetic association with disease have been performed in
Europeans. This European bias has important implications for risk prediction of diseases …
Europeans. This European bias has important implications for risk prediction of diseases …
Genetic interleukin 6 signaling deficiency attenuates cardiovascular risk in clonal hematopoiesis
Background: Clonal hematopoiesis of indeterminate potential (CHIP) refers to clonal
expansion of hematopoietic stem cells attributable to acquired leukemic mutations in genes …
expansion of hematopoietic stem cells attributable to acquired leukemic mutations in genes …
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
CV Van Hout, I Tachmazidou, JD Backman… - Nature, 2020 - nature.com
The UK Biobank is a prospective study of 502,543 individuals, combining extensive
phenotypic and genotypic data with streamlined access for researchers around the world …
phenotypic and genotypic data with streamlined access for researchers around the world …
The GenomeAsia 100K Project enables genetic discoveries across Asia
Nature, 2019 - nature.com
The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
Runs of homozygosity: windows into population history and trait architecture
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
High-density lipoproteins, reverse cholesterol transport and atherogenesis
HJ Pownall, C Rosales, BK Gillard… - Nature Reviews …, 2021 - nature.com
Plasma HDL-cholesterol concentrations correlate negatively with the risk of atherosclerotic
cardiovascular disease (ASCVD). According to a widely cited model, HDL elicits its …
cardiovascular disease (ASCVD). According to a widely cited model, HDL elicits its …