Article

Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

2021-11-04

Abstract excerpt

Clinical whole genome sequencing has enabled the discovery of potentially pathogenic noncoding variants in the genomes of rare disease patients with a prior history of negative genetic testing. However, interpreting the functional consequences of noncoding variants and distinguishing those that contribute to disease etiology remains a challenge. Here we address this challenge by experimentally profiling the functi...

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Literature Corpus work: c51b8dd5-a552-5a57-8196-2355ff3f19e8
DOI: 10.1101/2021.11.02.21265771

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