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Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

The American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) recently published important new guidelines aiming to improve and standardize the pathogenicity classification of genomic variants. The Clinical Sequencing Exploratory Research (CSER) consortium...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Jarvik, Gail P., Browning, Brian L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908147/
https://ncbi.nlm.nih.gov/pubmed/27236918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.003
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