In The Blood: Connecting Variant to Function In Human Hematopoiesis

Satish K. Nandakumar, Xiaotian Liao, Vijay G. Sankaran

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with a range of human diseases and traits. However, understanding the mechanisms by which these genetic variants have an impact on associated diseases and traits, often referred to as the variant-to-function (V2F) problem, remains a significant hurdle. Solving the V2F challenge requires us to identify causative genetic variants, relevant cell types/states, target genes, and mechanisms by which variants can cause diseases or alter phenotypic traits. We discuss emerging functional approaches that are being applied to tackle the V2F problem for blood cell traits, illuminating how human genetic variation can impact on key mechanisms in hematopoiesis, as well as highlighting future prospects for this nascent field.

Original languageEnglish (US)
Pages (from-to)563-576
Number of pages14
JournalTrends in Genetics
Volume36
Issue number8
DOIs
StatePublished - Aug 2020
Externally publishedYes

Keywords

  • blood cell traits
  • GWAS
  • hematopoiesis
  • variant to function

ASJC Scopus subject areas

  • Genetics

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