A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.

doi:10.1016/j.gim.2022.04.019

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Article

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2022

Seaby Eleanor G, Smedley Damian, Taylor Tavares Ana Lisa, Brittain Helen, van Jaarsveld Richard H, Baralle Diana, Rehm Heidi L, O'Donnell-Luria Anne, Ennis Sarah

Abstract excerpt

PURPOSE: Exome and genome sequencing have drastically accelerated novel disease gene discoveries. However, discovery is still hindered by myriad variants of uncertain significance found in genes of undetermined biological function. This necessitates intensive functional experiments on genes of equal predicted causality, leading to a major bottleneck. METHODS: We apply the loss-of-function observed/expected...

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PMID: 35532742
DOI: 10.1016/j.gim.2022.04.019

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