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

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...

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Autores principales:	Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-Martinez, Aaron Elliott, Elizabeth C. Chao, Rachid Karam
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Nature Portfolio 2022-08-01
Colección:	npj Genomic Medicine
Acceso en línea:	https://doi.org/10.1038/s41525-022-00323-y
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