Improving transparency of computational tools for variant effect prediction

Nat Genet. 2024 Jul;56(7):1324-1326. doi: 10.1038/s41588-024-01821-8.

Abstract

Efforts to integrate computational tools for variant effect prediction into the process of clinical decision-making are in progress. However, for such efforts to succeed and help to provide more informed clinical decisions, it is necessary to enhance transparency and address the current limitations of computational predictors.

MeSH terms

  • Computational Biology* / methods
  • Genetic Variation
  • Humans
  • Software