Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
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Publisher
London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Despite considerable progress on pathogenicity scores prioritizing variants for Mendelian disease, little is known about the utility of these scores for common disease. Here, we assess the informativeness of Mendelian disease-derived pathogenicity scores for common disease and improve upon existing scores. We first apply stratified linkage disequil...
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Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
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TN_cdi_doaj_primary_oai_doaj_org_article_a9c384dedfce4fe695bcccca771f0514
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a9c384dedfce4fe695bcccca771f0514
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-20087-2
