Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
Date
2022-08-25
Authors
Language
American English
Embargo Lift Date
Committee Members
Degree
Degree Year
Department
Grantor
Journal Title
Journal ISSN
Volume Title
Found At
Springer Nature
Abstract
DNA 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.
Description
Keywords
item.page.description.tableofcontents
item.page.relation.haspart
Cite As
Horton 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
ISSN
Publisher
Series/Report
Sponsorship
Major
Extent
Identifier
Relation
Journal
NPJ Genomic Medicine
Source
PMC
Alternative Title
Type
Article
Number
Volume
Conference Dates
Conference Host
Conference Location
Conference Name
Conference Panel
Conference Secretariat Location
Permanent Link
Version
Final published version