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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

Additional variant interpretation tools are required to effectively harness genomic sequencing for clinical applications. The American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) published guidelines for clinical sequence variant interpretation, inco...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Brnich, Sarah E., Rivera-Muñoz, Edgar A., Berg, Jonathan S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6548460/
https://ncbi.nlm.nih.gov/pubmed/30095857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23609
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