دورية أكاديمية
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
| العنوان: | Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer |
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| المؤلفون: | 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 |
| المصدر: | npj Genomic Medicine, Vol 7, Iss 1, Pp 1-6 (2022) |
| بيانات النشر: | Nature Portfolio, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Genetics |
| مصطلحات موضوعية: | Medicine, Genetics, QH426-470 |
| الوصف: | 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 identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2056-7944 |
| Relation: | https://doaj.org/toc/2056-7944 |
| DOI: | 10.1038/s41525-022-00323-y |
| URL الوصول: | https://doaj.org/article/b29d2bc716fe4104ad948a0a2f404b6d |
| رقم الأكسشن: | edsdoj.b29d2bc716fe4104ad948a0a2f404b6d |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 20567944 |
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| DOI: | 10.1038/s41525-022-00323-y |