Article

GRIPT: A novel case-control analysis method for Mendelian disease gene discovery

2018-10-29

Abstract excerpt

Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about 50% of Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases in which similar phenotypes are caused by different genes and each gene only accounts for a small proportion of the patients. To overcome this gap, we developed a novel method, the G...

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Literature Corpus work: f9ebba3e-b368-5def-bcd2-852725c5d98b
DOI: 10.1101/454975

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