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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Pubblicato in:NPJ Precis Oncol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7039900/
https://ncbi.nlm.nih.gov/pubmed/32133419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41698-020-0109-y
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