A domestic cat whole exome sequencing resource for trait discovery

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dc.citation.issue1
dc.citation.volume11
dc.contributor.authorRodney AR
dc.contributor.authorBuckley RM
dc.contributor.authorFulton RS
dc.contributor.authorFronick C
dc.contributor.authorRichmond T
dc.contributor.authorHelps CR
dc.contributor.authorPantke P
dc.contributor.authorTrent DJ
dc.contributor.authorVernau KM
dc.contributor.authorMunday JS
dc.contributor.authorLewin AC
dc.contributor.authorMiddleton R
dc.contributor.authorLyons LA
dc.contributor.authorWarren WC
dc.coverage.spatialEngland
dc.date.accessioned2024-02-05T01:01:25Z
dc.date.accessioned2024-07-25T06:49:44Z
dc.date.available2021-03-30
dc.date.available2024-02-05T01:01:25Z
dc.date.available2024-07-25T06:49:44Z
dc.date.issued2021-03-30
dc.description.abstractOver 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.
dc.description.confidentialfalse
dc.format.pagination7159-
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/33785770
dc.identifier.citationRodney AR, Buckley RM, Fulton RS, Fronick C, Richmond T, Helps CR, Pantke P, Trent DJ, Vernau KM, Munday JS, Lewin AC, Middleton R, Lyons LA, Warren WC. (2021). A domestic cat whole exome sequencing resource for trait discovery.. Sci Rep. 11. 1. (pp. 7159-).
dc.identifier.doi10.1038/s41598-021-86200-7
dc.identifier.eissn2045-2322
dc.identifier.elements-typejournal-article
dc.identifier.issn2045-2322
dc.identifier.numberARTN 7159
dc.identifier.pii10.1038/s41598-021-86200-7
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/70963
dc.languageeng
dc.publisherSpringer Nature Limited
dc.publisher.urihttps://www.nature.com/articles/s41598-021-86200-7
dc.relation.isPartOfSci Rep
dc.rights(c) The author/sen
dc.rights.licenseCC BY 4.0en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectAnimals
dc.subjectCat Diseases
dc.subjectCats
dc.subjectExome
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectMale
dc.subjectPolymorphism, Single Nucleotide
dc.subjectExome Sequencing
dc.titleA domestic cat whole exome sequencing resource for trait discovery
dc.typeJournal article
pubs.elements-id442584
pubs.organisational-groupOther
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