Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

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dc.contributor.authorHorton, Carolyn
dc.contributor.authorCass, Ashley
dc.contributor.authorConner, Blair R.
dc.contributor.authorHoang, Lily
dc.contributor.authorZimmermann, Heather
dc.contributor.authorAbualkheir, Nelly
dc.contributor.authorBurks, David
dc.contributor.authorQian, Dajun
dc.contributor.authorMolparia, Bhuvan
dc.contributor.authorVuong, Huy
dc.contributor.authorLaDuca, Holly
dc.contributor.authorGrzybowski, Jessica
dc.contributor.authorDurda, Kate
dc.contributor.authorPilarski, Robert
dc.contributor.authorProfato, Jessica
dc.contributor.authorClayback, Katherine
dc.contributor.authorMahoney, Martin
dc.contributor.authorSchroeder, Courtney
dc.contributor.authorTorres-Martinez, Wilfredo
dc.contributor.authorElliott, Aaron
dc.contributor.authorChao, Elizabeth C.
dc.contributor.authorKaram, Rachid
dc.contributor.departmentMedical and Molecular Genetics, School of Medicine
dc.date.accessioned2023-08-07T10:49:57Z
dc.date.available2023-08-07T10:49:57Z
dc.date.issued2022-08-25
dc.description.abstractDNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition.
dc.eprint.versionFinal published version
dc.identifier.citationHorton C, Cass A, Conner BR, et al. Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer. NPJ Genom Med. 2022;7(1):49. Published 2022 Aug 25. doi:10.1038/s41525-022-00323-y
dc.identifier.urihttps://hdl.handle.net/1805/34772
dc.language.isoen_US
dc.publisherSpringer Nature
dc.relation.isversionof10.1038/s41525-022-00323-y
dc.relation.journalNPJ Genomic Medicine
dc.rightsAttribution 4.0 Internationalen
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.sourcePMC
dc.subjectGenetic testing
dc.subjectCancer genetics
dc.subjectRNA splicing
dc.titleMutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
dc.typeArticle
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