Data resources for human functional genomics

Abstract

Characterizing and interpreting the function of the millions of genetic variants in the human genome is a pressing need in medical and evolutionary genomics and is fundamental to understanding the molecular, cellular, and organismal consequences of genetic variation. Over recent years, several large-scale efforts have established genome-wide resources that describe and map multiple elements of genome function across many tissue and cell types. Additional population based studies have simultaneously mapped genome-wide regulatory variation across large numbers of individuals. We summarize these resources, review the data types they offer, and insights they provide into human functional variation. We also discuss the challenges and developments needed to integrate both existing and new resources into a detailed map of how genetic differences impact molecular phenotypes and ultimately human health.