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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Genome Med
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2017
विषय:
Software
ऑनलाइन पहुंच: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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