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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

19 Oct 2020

Abstract excerpt

PURPOSE: Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought to demonstrate the utility of GS in the molecular diagnosis of 18 patients with clinically defined Alagille syndrome (ALGS), who had a negative or inconclusive result...

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PMID: 33077891
DOI: 10.1038/s41436-020-00989-8

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