UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants
Oct 21, 2021 | Julia Karow
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NEW YORK – Recessive Mendelian disorders are caused by mutations in both copies of a gene, but heterozygous carriers can sometimes also show mild phenotypes.
To study such incomplete penetrance of disease variants in greater detail, researchers have analyzed genetic data from the UK Biobank.
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https://www.cell.com/ajhg/fulltext/S0002-9297(16)30526-2
Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach
Zhiyu Wan
Yevgeniy Vorobeychik
Weiyi Xia
Ellen Wright Clayton
Murat Kantarcioglu
Bradley Malin
Published:January 05, 2017
DOI:https://doi.org/10.1016/j.ajhg.2016.12.002
Brain expression quantitative trait locus and network analysis reveals downstream effects and putative drivers for brain-related diseases by N. de Klein et al., bioRxiv, 2021.
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