Article
The Regulatory Mendelian Mutation score for GRCh38.
GigaScience - 28 Dec 2022
Schubach Max, Nazaretyan Lusiné, Kircher Martin
Abstract excerpt
BACKGROUND: Genome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the noncoding genome and the clinical need for methods that prioritize potentially disease causal noncoding variants. Some tools for assessment of variant pathogenicity as well as annotations are not available for the current human genome build (GRCh38), for which the adoption in databases,...
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