First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data

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http://hdl.handle.net/10138/298574

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99Lives Consortium , Genova , F & Lohi , H 2018 , ' First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data ' , BMC Genomics , vol. 19 , 895 . https://doi.org/10.1186/s12864-018-5297-2

Title: First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data
Author: 99Lives Consortium; Genova, F.; Lohi, Hannes
Contributor: University of Helsinki, Hannes Tapani Lohi / Principal Investigator
Date: 2018-12-10
Language: eng
Number of pages: 13
Belongs to series: BMC Genomics
ISSN: 1471-2164
URI: http://hdl.handle.net/10138/298574
Abstract: BackgroundCopy Number Variations (CNVs) have becoming very significant variants, representing a major source of genomic variation. CNVs involvement in phenotypic expression and different diseases has been widely demonstrated in humans as well as in many domestic animals. However, genome wide investigation on these structural variations is still missing in Felis catus. The present work is the first CNV mapping from a large data set of Next Generation Sequencing (NGS) data in the domestic cat, performed within the 99 Lives Consortium.ResultsReads have been mapped on the reference assembly_6.2 by Maverix Biomics. CNV detection with cn.MOPS and CNVnator detected 592 CNVs. These CNVs were used to obtain 154 CNV Regions (CNVRs) with BedTools, including 62 singletons. CNVRs covered 0.26% of the total cat genome with 129 losses, 19 gains and 6 complexes. Cluster Analysis and Principal Component Analysis of the detected CNVRs showed that breeds tend to cluster together as well as cats sharing the same geographical origins. The 46 genes identified within the CNVRs were annotated.ConclusionThis study has improved the genomic characterization of 14 cat breeds and has provided CNVs information that can be used for studies of traits in cats. It can be considered a sound starting point for genomic CNVs identification in this species.
Subject: CNV
CNVR
Cn
MOPS
CNVnator
NGS
Felis catus
Cat breeds
COPY-NUMBER VARIATION
DOMESTIC CAT
VARIANTS
GENE
IDENTIFICATION
BREEDS
REX
413 Veterinary science
1184 Genetics, developmental biology, physiology
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