Combined annotation‐dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer

Utility of combined annotation‐dependent depletion (CADD) score was recently reported to rank pathogenicity as C‐scores ranging 1‐99 for both confirmed deleterious mutation. Using C‐scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (V...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Cancer Sci
Main Authors: Nakagomi, Hiroshi, Mochizuki, Hitoshi, Inoue, Masayuki, Hirotsu, Yosuke, Amemiya, Kenji, Sakamoto, Ikuko, Nakagomi, Satoko, Kubota, Takeo, Omata, Masao
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2018
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5797818/
https://ncbi.nlm.nih.gov/pubmed/29215753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cas.13464
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