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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Genome Med
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2017
נושאים:
Software
גישה מקוונת: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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