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The Regulatory Mendelian Mutation score for GRCh38.

Max SchubachLusiné NazaretyanMartin Kircher
Published in: GigaScience (2023)
Scores of the GRCh38 genome build are highly correlated to the prior release with a performance increase due to the better coverage of features. For prioritization of noncoding mutations in imbalanced datasets, the ReMM score performed much better than other variation scores. Prescored whole-genome files of GRCh37 and GRCh38 genome builds are cited in the article and the website; UCSC genome browser tracks, and an API are available at https://remm.bihealth.org.
Keyphrases
  • genome wide
  • transcription factor
  • healthcare
  • gene expression
  • health insurance