Article

Functional Predictors of Causative <i>Cis</i> -Regulatory Mutations in Mendelian Disease

2020-08-03

Abstract excerpt

Undiagnosed neurodevelopmental disease is significantly associated with rare variants in cis -regulatory elements (CRE) but demonstrating causality is challenging as target gene consequences may differ from a causative variant affecting the coding region. Here, we address this challenge by applying a procedure to discriminate likely diagnostic regulatory variants from those of neutral/low-penetrant effect. We ide...

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Literature Corpus work: 2936809f-acf8-58d3-9e87-55ae9b4b116c
DOI: 10.1101/2020.08.03.232926

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