ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

BACKGROUND: The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through practice guidelines, the American College of Medical Genetics and Genomics (ACMG...

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書誌詳細
出版年:Genome Med
主要な著者: Patel, Ronak Y., Shah, Neethu, Jackson, Andrew R., Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shawn, Nelson, Tristan, Jarvik, Gail P., Rehm, Heidi L., Harrison, Steven M., Azzariti, Danielle, Powell, Bradford, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2017
主題:
Software
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5228115/
https://ncbi.nlm.nih.gov/pubmed/28081714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0391-z
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