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

Ó. González-Recio | Zendy; Hans D. Daetwyler | Zendy; Iona M. MacLeod | Zendy; J.E. Pryce | Zendy; Phil Bowman | Zendy; Ben J. Hayes | Zendy; Michael E. Goddard | Zendy

Open Access

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

Author(s) -

Ó. González-Recio,

Hans D. Daetwyler,

Iona M. MacLeod,

J.E. Pryce,

Phil Bowman,

Ben J. Hayes,

Michael E. Goddard

Publication year - 2015

Publication title -

plos one

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.99

H-Index - 332

ISSN - 1932-6203

DOI - 10.1371/journal.pone.0143945

Subject(s) - heritability , biology , imputation (statistics) , genetic variation , genetics , single nucleotide polymorphism , missing heritability problem , explained variation , snp , genotype , gene , missing data , statistics , mathematics

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

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