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...

Descripció completa

Dades bibliogràfiques

Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2022-08-01
Col·lecció:	npj Genomic Medicine
Accés en línia:	https://doi.org/10.1038/s41525-022-00323-y
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!