Article

The Regulatory Mendelian Mutation score for GRCh38

2022-03-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Motivation</h4> Various genome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the non-coding genome and the clinical need for methods that prioritize potentially disease causal non-coding variants. Some methods and annotations are not available for the current human genome build (GRCh38), for which the adoption in databases, software and...

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Literature Corpus work: 05990c10-5721-5c2e-a5d6-21c523d9070b
DOI: 10.1101/2022.03.14.484240

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