The impact of rare and low-frequency genetic variants in common disease.

doi:10.1186/s13059-017-1212-4

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Article

The impact of rare and low-frequency genetic variants in common disease.

Genome biology - 27 Apr 2017

Bomba Lorenzo, Walter Klaudia, Soranzo Nicole

Abstract excerpt

Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex...

Topics

Computational Biology
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genome-Wide Association Study
Genomics
Humans
Mutation Rate

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Identifiers

PMID: 28449691
DOI: 10.1186/s13059-017-1212-4
PMCID: PMC5408830

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