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

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 identifi...

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Detalles Bibliográficos
Autores principales: Horton, Carolyn, Cass, Ashley, Conner, Blair R., Hoang, Lily, Zimmermann, Heather, Abualkheir, Nelly, Burks, David, Qian, Dajun, Molparia, Bhuvan, Vuong, Huy, LaDuca, Holly, Grzybowski, Jessica, Durda, Kate, Pilarski, Robert, Profato, Jessica, Clayback, Katherine, Mahoney, Martin, Schroeder, Courtney, Torres-Martinez, Wilfredo, Elliott, Aaron, Chao, Elizabeth C., Karam, Rachid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411123/
https://www.ncbi.nlm.nih.gov/pubmed/36008414
http://dx.doi.org/10.1038/s41525-022-00323-y