A domestic cat whole exome sequencing resource for trait discovery

Abstract Over 94 million domestic cats are susceptible to cancers and other common and rare diseases. Whole exome sequencing (WES) is a proven strategy to study these disease-causing variants. Presented is a 35.7 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, coverin...

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Autores principales:	Alana R. Rodney, Reuben M. Buckley, Robert S. Fulton, Catrina Fronick, Todd Richmond, Christopher R. Helps, Peter Pantke, Dianne J. Trent, Karen M. Vernau, John S. Munday, Andrew C. Lewin, Rondo Middleton, Leslie A. Lyons, Wesley C. Warren
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/e18ff08359a64385b50b033630e617e2
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spelling	oai:doaj.org-article:e18ff08359a64385b50b033630e617e22021-12-02T14:25:09ZA domestic cat whole exome sequencing resource for trait discovery10.1038/s41598-021-86200-72045-2322https://doaj.org/article/e18ff08359a64385b50b033630e617e22021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86200-7https://doaj.org/toc/2045-2322Abstract Over 94 million domestic cats are susceptible to cancers and other common and rare diseases. Whole exome sequencing (WES) is a proven strategy to study these disease-causing variants. Presented is a 35.7 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, covering 201,683 regions of the cat genome. Whole exome sequencing was conducted on 41 cats with known and unknown genetic diseases and traits, of which ten cats had matching whole genome sequence (WGS) data available, used to validate WES performance. At 80 × mean exome depth of coverage, 96.4% of on-target base coverage had a sequencing depth > 20-fold, while over 98% of single nucleotide variants (SNVs) identified by WGS were also identified by WES. Platform-specific SNVs were restricted to sex chromosomes and a small number of olfactory receptor genes. Within the 41 cats, we identified 31 previously known causal variants and discovered new gene candidate variants, including novel missense variance for polycystic kidney disease and atrichia in the Peterbald cat. These results show the utility of WES to identify novel gene candidate alleles for diseases and traits for the first time in a feline model.Alana R. RodneyReuben M. BuckleyRobert S. FultonCatrina FronickTodd RichmondChristopher R. HelpsPeter PantkeDianne J. TrentKaren M. VernauJohn S. MundayAndrew C. LewinRondo MiddletonLeslie A. LyonsWesley C. WarrenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Alana R. Rodney Reuben M. Buckley Robert S. Fulton Catrina Fronick Todd Richmond Christopher R. Helps Peter Pantke Dianne J. Trent Karen M. Vernau John S. Munday Andrew C. Lewin Rondo Middleton Leslie A. Lyons Wesley C. Warren A domestic cat whole exome sequencing resource for trait discovery
description	Abstract Over 94 million domestic cats are susceptible to cancers and other common and rare diseases. Whole exome sequencing (WES) is a proven strategy to study these disease-causing variants. Presented is a 35.7 Mb exome capture design based on the annotated Felis_catus_9.0 genome assembly, covering 201,683 regions of the cat genome. Whole exome sequencing was conducted on 41 cats with known and unknown genetic diseases and traits, of which ten cats had matching whole genome sequence (WGS) data available, used to validate WES performance. At 80 × mean exome depth of coverage, 96.4% of on-target base coverage had a sequencing depth > 20-fold, while over 98% of single nucleotide variants (SNVs) identified by WGS were also identified by WES. Platform-specific SNVs were restricted to sex chromosomes and a small number of olfactory receptor genes. Within the 41 cats, we identified 31 previously known causal variants and discovered new gene candidate variants, including novel missense variance for polycystic kidney disease and atrichia in the Peterbald cat. These results show the utility of WES to identify novel gene candidate alleles for diseases and traits for the first time in a feline model.
format	article
author	Alana R. Rodney Reuben M. Buckley Robert S. Fulton Catrina Fronick Todd Richmond Christopher R. Helps Peter Pantke Dianne J. Trent Karen M. Vernau John S. Munday Andrew C. Lewin Rondo Middleton Leslie A. Lyons Wesley C. Warren
author_facet	Alana R. Rodney Reuben M. Buckley Robert S. Fulton Catrina Fronick Todd Richmond Christopher R. Helps Peter Pantke Dianne J. Trent Karen M. Vernau John S. Munday Andrew C. Lewin Rondo Middleton Leslie A. Lyons Wesley C. Warren
author_sort	Alana R. Rodney
title	A domestic cat whole exome sequencing resource for trait discovery
title_short	A domestic cat whole exome sequencing resource for trait discovery
title_full	A domestic cat whole exome sequencing resource for trait discovery
title_fullStr	A domestic cat whole exome sequencing resource for trait discovery
title_full_unstemmed	A domestic cat whole exome sequencing resource for trait discovery
title_sort	domestic cat whole exome sequencing resource for trait discovery
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/e18ff08359a64385b50b033630e617e2
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A domestic cat whole exome sequencing resource for trait discovery

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