Article

Challenges associated with diagnostic exome sequencing in liver diseases

2022-06-25

Abstract excerpt

Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We analyzed ES data in 758 patients with liver diseases., We developed a curated list of 502 genes for monogenic disorders associated with liver phenotypes and analyzed ES data for these genes in 758 patients with chronic liver diseases (CLD)....

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Literature Corpus work: 4f32fb24-dede-581b-bf92-8324645e6893
DOI: 10.1101/2022.06.21.22276400

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