Article

Identifying therapeutic drug targets for rare and common forms of short stature

2020-04-03

Abstract excerpt

While GWAS of common diseases has delivered thousands of novel genetic findings, prioritizing genes for translation to therapeutics has been challenging. Here, we propose an approach to resolve that issue by identifying genes that have both gain of function (GoF) and loss of function (LoF) mutations associated with opposing effects on phenotype (Bidirectional Effect Selected Targets, BEST). Bidirectionality is a d...

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Literature Corpus work: 08582731-fe33-56f9-8fdc-67f6180940e0
DOI: 10.1101/2020.04.02.022624

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