Reference : Detection of copy number variants in the horse genome and examination of their associ...
Scientific journals : Short communication
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/138222
Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy
English
Dupuis, Marie-Capucine [Université de Liège - ULiège > Département des Productions Animales > Unité de Génomique Animale > >]
Zhang, Zhiyan [Université de Liège - ULiège > > > Doct. sc. vété. (Bologne)]
Durkin, Keith mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Charlier, Carole mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
Lekeux, Pierre mailto [Université de Liège - ULiège > Département de sciences fonctionnelles > Physiologie >]
Georges, Michel mailto [Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale >]
2013
Animal Genetics
Blackwell Publishing
Yes (verified by ORBi)
International
0268-9146
1365-2052
Oxford
United Kingdom
[en] CNV ; genetics ; horse ; larynx ; neuropathy
[en] We used the data from a recently performed genome-wide association study using the Illumina Equine SNP50 beadchip for the detection of copy number variants (CNVs) and examined their association with recurrent laryngeal neuropathy (RLN), an important equine upper airway disease compromising performance. A total of 2797 CNVs were detected for 477 horses, covering 229 kb and seven SNPs on average. Overlapping CNVs were merged to define 478 CNV regions (CNVRs). CNVRs, particularly deletions, were shown to be significantly depleted in genes. Fifty-two of the 67 common CNVRs (frequency ! 1%) were validated by association mapping, Mendelian inheritance, and/or Mendelian inconsistencies. None of the 67 common CNVRs were significantly associated with RLN when accounting for multiple testing. However, a duplication on chromosome 10 was detected in 10 cases (representing three breeds) and two unphenotyped parents but in none of the controls. The duplication was embedded in an 8-Mb haplotype shared across
breeds.
Researchers ; Professionals ; Students
http://hdl.handle.net/2268/138222
10.1111/j.1365-2052.2012.02373.x

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