Article

Systematic assessment of regulatory effects of human disease variants in pluripotent cells

2019-09-28

Abstract excerpt

Identifying regulatory genetic effects in pluripotent cells provides important insights into disease variants with potentially transient or developmental origins. Combining existing and newly-generated data, we characterized 1,367 iPSC lines from 948 unique donors, collectively analyzed within the “Integrated iPSC QTL” (i2QTL) Consortium. The sample size of our study allowed us to derive the most comprehensive map...

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Literature Corpus work: ef1c8695-08b5-52cc-b1a1-7b52c4f0ab50
DOI: 10.1101/784967

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