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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in huma...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Bean, Lora J. H., Hegde, Madhuri R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5733812/
https://ncbi.nlm.nih.gov/pubmed/29254502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0508-z
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