Ontology highlight
ABSTRACT:
SUBMITTER: Ulirsch JC
PROVIDER: S-EPMC6441389 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Ulirsch Jacob C JC Lareau Caleb A CA Bao Erik L EL Ludwig Leif S LS Guo Michael H MH Benner Christian C Satpathy Ansuman T AT Kartha Vinay K VK Salem Rany M RM Hirschhorn Joel N JN Finucane Hilary K HK Aryee Martin J MJ Buenrostro Jason D JD Sankaran Vijay G VG
Nature genetics 20190311 4
Widespread linkage disequilibrium and incomplete annotation of cell-to-cell state variation represent substantial challenges to elucidating mechanisms of trait-associated genetic variation. Here we perform genetic fine-mapping for blood cell traits in the UK Biobank to identify putative causal variants. These variants are enriched in genes encoding proteins in trait-relevant biological pathways and in accessible chromatin of hematopoietic progenitors. For regulatory variants, we explore patterns ...[more]