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Article

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.

Cell - 2 Jun 2016

Ulirsch Jacob C, Nandakumar Satish K, Wang Li, Giani Felix C, Zhang Xiaolan, Rogov Peter, Melnikov Alexandre, McDonel Patrick, Do Ron, Mikkelsen Tarjei S, Sankaran Vijay G

Abstract excerpt

Genome-wide association studies (GWAS) have successfully identified thousands of associations between common genetic variants and human disease phenotypes, but the majority of these variants are non-coding, often requiring genetic fine-mapping, epigenomic profiling, and individual reporter assays to delineate potential causal variants. We employ a massively parallel reporter assay (MPRA) to simultaneously screen...

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Identifiers

PMID: 27259154
DOI: 10.1016/j.cell.2016.04.048
PMCID: PMC4893171

Genes

RBM38
SMIM1

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