Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
25 Aug 2022
25 Aug 2022
Historique:
received:
06
01
2022
accepted:
10
08
2022
entrez:
25
8
2022
pubmed:
26
8
2022
medline:
26
8
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36008414
doi: 10.1038/s41525-022-00323-y
pii: 10.1038/s41525-022-00323-y
pmc: PMC9411123
doi:
Types de publication
Journal Article
Langues
eng
Pagination
49Informations de copyright
© 2022. The Author(s).
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