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Detection of copy number variants in African goats using whole genome sequence data

Detection of copy number variants in African goats using whole genome sequence data

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dc.contributor.author Wilson Nandolo
dc.contributor.author Gábor Mészáros
dc.contributor.author Maria Wurzinger
dc.contributor.author Liveness J. Banda
dc.contributor.author Timothy N. Gondwe
dc.contributor.author Henry A. Mulindwa
dc.contributor.author Helen N. Nakimbugwe
dc.contributor.author Emily L. Clark
dc.contributor.author M. Jennifer Woodward-Greene
dc.contributor.author Mei Liu
dc.contributor.author George E. Liu
dc.contributor.author Curtis P. Van Tassell
dc.contributor.author Benjamin D. Rosen
dc.contributor.author Johann Sölkner
dc.date.accessioned 2021-01-10T11:55:58Z
dc.date.available 2021-01-10T11:55:58Z
dc.date.issued 2020
dc.identifier.uri https://combine.alvar.ug/handle/1/49325
dc.description.abstract Abstract; Background Copy number variations (CNV) are a significant source of variation in the genome and are therefore essential to the understanding of genetic characterization. The aim of this study was to develop a fine-scaled copy number variation map for African goats. We used sequence data from multiple breeds and from multiple African countries. Results A total of 253,553 CNV (244,876 deletions and 8,677 duplications) were identified, corresponding to an overall average of 1,393 CNV per animal. The mean CNV length was 3.3 kb, with a median of 1.3 kb. There was substantial differentiation between the populations for some CNV, suggestive of the effect of population-specific selective pressures. A total of 6,231 global CNV regions (CNVR) were found across all animals, representing 59.2 Mb (2.4%) of the goat genome. About 1.6% of the CNVR were present in all 34 breeds and 28.7% were present in all 5 geographical areas across Africa, where animals had been sampled. The CNVR had genes that were highly enriched in important biological functions, molecular functions, and cellular components including retrograde endocannabinoid signaling, glutamatergic synapse and circadian entrainment. Conclusions This study presents the first fine CNV map of African goat based on WGS data and adds to the growing body of knowledge on the genetic characterization of goats.
dc.publisher Research Square
dc.title Detection of copy number variants in African goats using whole genome sequence data
dc.type preprint
dc.identifier.doi 10.21203/rs.3.rs-15747/v2
dc.identifier.lens 135-727-852-252-420


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