Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Classification of rare missense substitutions observed during genetic testing for patient management is a considerable problem in clinical genetics. The Bayesian integrated evaluation of unclassified variants is a solution originally developed for BRCA1/2. Here, we take a step toward an analogous sy...

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Publié dans:Hum Mutat
Auteurs principaux: Thompson, Bryony A., Greenblatt, Marc S., Vallee, Maxime P., Herkert, Johanna C., Tessereau, Chloe, Young, Erin L., Adzhubey, Ivan A., Li, Biao, Bell, Russell, Feng, Bingjian, Mooney, Sean D., Radivojac, Predrag, Sunyaev, Shamil R., Frebourg, Thierry, Hofstra, Robert M.W., Sijmons, Rolf H., Boucher, Ken, Thomas, Alun, Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4318556/
https://ncbi.nlm.nih.gov/pubmed/22949387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22214
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