Article

High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine

2021-09-01

Abstract excerpt

<h4>ABSTRACT</h4> Possession of a clinical or molecular disease label alters the context in which life-course events operate, but rarely explains the phenotypic variability observed by clinicians. Whole genome sequencing of unselected endothelial vasculopathy patients demonstrated more than a third had rare, likely deleterious variants in clinically-relevant genes unrelated to their vasculopathy (1 in 10 within pl...

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Literature Corpus work: b77c2024-e113-588c-9ac2-fe24f9a0e47b
DOI: 10.1101/2021.08.28.21262560

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