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

2021-11-04 genetic and genomic medicine Title + abstract only

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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 functional consequences of rare noncoding variants detected in a cohort of undiagnosed ra...

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

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