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

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

Genome Med. 2017 Dec 18;9(1):111. doi: 10.1186/s13073-017-0508-z.

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

Bean LJH1,2, Hegde MR3,4,5.

Author information

Abstract

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.

KEYWORDS:

American College of Medical Genetics (ACMG); Association for Molecular Pathology (AMP); ClinVar; Clinical genetics; Diagnostics; In silico algorithm; Variant interpretation

PMID:

 

29254502

 

PMCID:

 

PMC5733812

 

DOI:

 

10.1186/s13073-017-0508-z

Free PMC Article