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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Detalles Bibliográficos
Autores principales: Bean, Lora J. H., Hegde, Madhuri R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733812/
https://www.ncbi.nlm.nih.gov/pubmed/29254502
http://dx.doi.org/10.1186/s13073-017-0508-z
Descripción
Sumario: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 human disease is inconsistent across clinical laboratories. The clinical genetics community must carefully consider how in silico predictions can be incorporated into variant interpretation in clinical practice. Please see related Research article: https://doi.org/10.1186/s13059-017-1353-5

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