We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
- Authors
Bean, Lora J. H.; Hegde, Madhuri R.
- 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.
- Subjects
MEDICAL genetics; NUCLEOTIDE sequencing; AMINO acids; HUMAN genetic variation; AMERICAN College of Medical Genetics; ASSOCIATION for Molecular Pathology
- Publication
Genome Medicine, 2017, Vol 9, p1
- ISSN
1756-994X
- Publication type
Article
- DOI
10.1186/s13073-017-0508-z