Article

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

2020-01-03

Abstract excerpt

Despite considerable progress on pathogenicity scores prioritizing both coding and noncoding variants for Mendelian disease, little is known about the utility of these pathogenicity scores for common disease. Here, we sought to assess the informativeness of Mendelian diseasederived pathogenicity scores for common disease, and to improve upon existing scores. We first applied stratified LD score regression to asses...

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Literature Corpus work: c6fbb0d3-4bfb-5bae-b9a6-a6b90b77f39b
DOI: 10.1101/2020.01.02.890657

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