HIGHLIGHTS
- who: Findings and collaborators from the Exploratory Diagnostic Sciences, Berlin Institute of Health at Charitu00e9-Universitu00e4tsmedizin Berlin, Berlin, Germany Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lu00fcbeck, Lu00fcbeck, Germany have published the Article: The Regulatory Mendelian Mutation score for GRCh38, in the Journal: (JOURNAL) of January/10,/2023
- what: The authors show that the score has superior performance on imbalanced datasets compared to competing approaches and the most frequently used scores in the field. The authors provide a webserver and API for scoring VCF files, single-variant lookups, or range lookups . . .
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