From variant to function in human disease genetics

Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23.

Abstract

Over the next decade, the primary challenge in human genetics will be to understand the biological mechanisms by which genetic variants influence phenotypes, including disease risk. Although the scale of this challenge is daunting, better methods for functional variant interpretation will have transformative consequences for disease diagnosis, risk prediction, and the development of new therapies. An array of new methods for characterizing variant impact at scale, using patient tissue samples as well as in vitro models, are already being applied to dissect variant mechanisms across a range of human cell types and environments. These approaches are also increasingly being deployed in clinical settings. We discuss the rationale, approaches, applications, and future outlook for characterizing the molecular and cellular effects of genetic variants.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Disease / genetics*
  • Gene Expression Regulation
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Predisposition to Disease
  • Genetic Techniques*
  • Genetic Variation*
  • Genome, Human*
  • Genome-Wide Association Study
  • Genomics*
  • Humans
  • Molecular Sequence Annotation
  • Multifactorial Inheritance / genetics
  • Phenotype
  • Quantitative Trait Loci