About this item:

175 Views | 364 Downloads

Author Notes:

Corresponding author: Lora J. H. Bean, Email: lorabean@eglgenetics.com

LJHB and MRH wrote the manuscript.

Both authors read and approved the final manuscript.

The authors declare that they have no competing interests.

Subjects:

Research Funding:

The authors declare that no funding was provided for the writing of this article.

Keywords:

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

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

Tools:

Journal Title:

Genome Medicine

Volume:

Volume 9, Number 1

Publisher:

, Pages 111-111

Type of Work:

Article | Final Publisher PDF

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.

Copyright information:

© The Author(s). 2017

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
Export to EndNote