title: Human genetic variation and its contribution to complex traits.
abstract: The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.
authors.affiliation: Scripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA. kfrazer@scripps.edu
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
authors.forename: Sarah S
authors.initials: SS
authors.lastname: Murray
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Schork
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Topol
mesh_terms: D001483:Base Sequence; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide