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.

Keywords

BiologyPhenotypeTraitGenetic variationHuman genetic variationEvolutionary biologyGeneticsQuantitative trait locusVariation (astronomy)Genome-wide association studySingle-nucleotide polymorphismPhenotypic traitCopy-number variationGenetic architectureComputational biologyHuman geneticsGeneGenomeHuman genomeGenotype

MeSH Terms

Base SequenceGenetic Predisposition to DiseaseGenetic VariationGenomeHumanGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMolecular Sequence DataPhenotypePolymorphismSingle Nucleotide

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Publication Info

Year
2009
Type
review
Volume
10
Issue
4
Pages
241-251
Citations
1085
Access
Closed

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Cite This

Kelly A. Frazer, Sarah S. Murray, Nicholas J. Schork et al. (2009). Human genetic variation and its contribution to complex traits. Nature Reviews Genetics , 10 (4) , 241-251. https://doi.org/10.1038/nrg2554

Identifiers

DOI
10.1038/nrg2554
PMID
19293820

Data Quality

Data completeness: 86%