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Article

Elucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis.

Scientific reports - 3 Jan 2017

Whitacre Lynsey K, Hoff Jesse L, Schnabel Robert D, Albarella Sara, Ciotola Francesca, Peretti Vincenzo, Strozzi Francesco, Ferrandi Chiara, Ramunno Luigi, Sonstegard Tad S, Williams John L, Taylor Jeremy F, Decker Jared E

Abstract excerpt

Recent strong selection for dairy traits in water buffalo has been associated with higher levels of inbreeding, leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by absence of a variable distal portion of the hindlimbs. Limited genomic resources available for water buffalo required an original approach to identify...

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Identifiers

PMID: 28045068
DOI: 10.1038/srep39719
PMCID: PMC5206621

Genes

SMARCA4
NOTCH1
RARB

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