Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
NPJ Genom Med
; 7(1): 49, 2022 Aug 25.
Article
em En
| MEDLINE
| ID: mdl-36008414
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article