The Missing Diversity in Human Genetic Studies.

By Giorgio Sirugo, Scott M. Williams, S. Tishkoff. Cell, 2019

1,228 citations recorded by the source corpus.

Giorgio Sirugo,1,2,6,* Scott M. Williams,5,6,* and Sarah A. Tishkoff3,4,6,* 1Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 2Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 3Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 4Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA 5Departments of Population and Quantitative Health Sciences, and Genetics and Genome Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA 6All three authors contributed equally *Correspondence: giorgio.sirugo@pennmedicine.upenn.edu (G.S.), smw154@case.edu (S.M.W.), tishkoff@pennmedicine.upenn.edu (S.A.T.) https://doi.org/10.1016/j.cell.2019.02.048

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/94891f44f528a601aa3c70fb168836bd0eb9e7e1

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Citations in the corpus

Adaptive Sampling Strategies to Construct Equitable Training Datasets (2022, background): “For instance, a deep learning approach to training PRSs might use all available data for a single model instead of training separate models such as in our example [5].”
The power of genetic diversity in genome-wide association studies of lipids (2021, background): “Of these 159 variants, 31 showed the largest effect in African ancestry analyses, 24 in East Asian, 67 in European, 20 in Hispanic and 17 in South Asian.”
Artificial intelligence in clinical and genomic diagnostics (2019, background): “…outcomes, whereas other substructure can be attributed to external factors such as socioeconomic status, cultural practices, unequal representation, and other non-causal factors that relate to the delivery and accessibility of medicine and clinical tests rather than to their efficacy [88, 89].”
Multimodal biomedical AI (2022, background): “Genomics research is a prominent example, with the vast majority of studies focusing on individuals from European ancestry 144 .”
Plasma proteomic associations with genetics and health in the UK Biobank (2023, background): “These findings further underline the value of prioritizing under-represented and genetically diverse populations for future pQTL mapping studies 54,55 .”