From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
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 …

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 …

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

M Vujkovic, JM Keaton, JA Lynch, DR Miller, J Zhou… - Nature …, 2020 - nature.com
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 …

Clinical review on triglycerides

U Laufs, KG Parhofer, HN Ginsberg… - European heart …, 2020 - academic.oup.com
Hypertriglyceridaemia is a common clinical problem. Epidemiologic and genetic studies
have established that triglyceride-rich lipoproteins (TRL) and their remnants as important …

[HTML][HTML] The missing diversity in human genetic studies

G Sirugo, SM Williams, SA Tishkoff - Cell, 2019 - cell.com
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 …

Genetic interleukin 6 signaling deficiency attenuates cardiovascular risk in clonal hematopoiesis

AG Bick, JP Pirruccello, GK Griffin, N Gupta, S Gabriel… - Circulation, 2020 - Am Heart Assoc
Background: Clonal hematopoiesis of indeterminate potential (CHIP) refers to clonal
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 …

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 …

Runs of homozygosity: windows into population history and trait architecture

FC Ceballos, PK Joshi, DW Clark, M Ramsay… - Nature Reviews …, 2018 - nature.com
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 …

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 …