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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...

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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