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Rare Variants in Transcript and Potential Regulatory Regions Explain a Small Percentage of the Missing Heritability of Complex Traits in Cattle.

ABSTRACT: The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common variants on SNP arrays. Sequence variants in transcript and regulatory regions from 429 sequenced animals were used to impute high density SNP genotypes of 3311 Holstein sires to sequence. There were 675,062 common variants (MAF>0.05), 102,549 uncommon variants (0.01

SUBMITTER: Gonzalez-Recio O

PROVIDER: S-EPMC4671594 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Rare Variants in Transcript and Potential Regulatory Regions Explain a Small Percentage of the Missing Heritability of Complex Traits in Cattle.

Gonzalez-Recio Oscar O Daetwyler Hans D HD MacLeod Iona M IM Pryce Jennie E JE Bowman Phil J PJ Hayes Ben J BJ Goddard Michael E ME

PloS one 20151207 12

The proportion of genetic variation in complex traits explained by rare variants is a key question for genomic prediction, and for identifying the basis of "missing heritability"--the proportion of additive genetic variation not captured by common variants on SNP arrays. Sequence variants in transcript and regulatory regions from 429 sequenced animals were used to impute high density SNP genotypes of 3311 Holstein sires to sequence. There were 675,062 common variants (MAF>0.05), 102,549 uncommon ...[more]

PMID: 26642058

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