Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequ...
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
About this item
Full title
Author / Creator
Brnich, Sarah E. , Abou Tayoun, Ahmad N. , Couch, Fergus J. , Cutting, Garry R. , Greenblatt, Marc S. , Heinen, Christopher D. , Kanavy, Dona M. , Luo, Xi , McNulty, Shannon M. , Starita, Lea M. , Tavtigian, Sean V. , Wright, Matt W. , Harrison, Steven M. , Biesecker, Leslie G. , Berg, Jonathan S. , On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group and Clinical Genome Resource Sequence Variant Interpretation Working Group
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for "well-established" functional assays demonstrating a variant has abnormal or normal gene/prote...
Alternative Titles
Full title
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Authors, Artists and Contributors
Author / Creator
Abou Tayoun, Ahmad N.
Couch, Fergus J.
Cutting, Garry R.
Greenblatt, Marc S.
Heinen, Christopher D.
Kanavy, Dona M.
Luo, Xi
McNulty, Shannon M.
Starita, Lea M.
Tavtigian, Sean V.
Wright, Matt W.
Harrison, Steven M.
Biesecker, Leslie G.
Berg, Jonathan S.
On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Clinical Genome Resource Sequence Variant Interpretation Working Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_4407a9ebc41048f29d3325398d3b8d31
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4407a9ebc41048f29d3325398d3b8d31
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-019-0690-2
