Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining with...

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Autores principales: Landrith, Tyler, Li, Bing, Cass, Ashley A., Conner, Blair R., LaDuca, Holly, McKenna, Danielle B., Maxwell, Kara N., Domchek, Susan, Morman, Nichole A., Heinlen, Christopher, Wham, Deborah, Koptiuch, Cathryn, Vagher, Jennie, Rivera, Ragene, Bunnell, Ann, Patel, Gayle, Geurts, Jennifer L., Depas, Morgan M., Gaonkar, Shraddha, Pirzadeh-Miller, Sara, Krukenberg, Rebekah, Seidel, Meredith, Pilarski, Robert, Farmer, Meagan, Pyrtel, Khateriaa, Milliron, Kara, Lee, John, Hoodfar, Elizabeth, Nathan, Deepika, Ganzak, Amanda C., Wu, Sitao, Vuong, Huy, Xu, Dong, Arulmoli, Aarani, Parra, Melissa, Hoang, Lily, Molparia, Bhuvan, Fennessy, Michele, Fox, Susanne, Charpentier, Sinead, Burdette, Julia, Pesaran, Tina, Profato, Jessica, Smith, Brandon, Haynes, Ginger, Dalton, Emily, Crandall, Joy Rae-Radecki, Baxter, Ruth, Lu, Hsiao-Mei, Tippin-Davis, Brigette, Elliott, Aaron, Chao, Elizabeth, Karam, Rachid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039900/
https://www.ncbi.nlm.nih.gov/pubmed/32133419
http://dx.doi.org/10.1038/s41698-020-0109-y

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