Article

Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples

2020-09-20

Abstract excerpt

<h4>Background</h4> One of the growing problems in genome diagnostics is the increasing number of variants that get identified through genetic testing but for which it is unknown what the significance for the disease is (Variants of Unknown Significance - VUS) 1,2 . When these variants are observed in patients, clinicians need to be able to determine their relevance for causing the patient’s disease. Here we inv...

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Literature Corpus work: 4f294461-e845-5da8-b435-798173aab2a8
DOI: 10.1101/2020.09.19.300095

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