ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Authors
Keywords
-
Journal
Genome Medicine
Volume 14, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-18
DOI
10.1186/s13073-021-01004-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
- (2019) Annie Niehaus et al. GENETICS IN MEDICINE
- The EMBL-EBI search and sequence analysis tools APIs in 2019
- (2019) Fábio Madeira et al. NUCLEIC ACIDS RESEARCH
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
- (2019) Kent A Shefchek et al. NUCLEIC ACIDS RESEARCH
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
- (2019) Sarah E. Brnich et al. Genome Medicine
- Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
- (2019) Hannah Gelman et al. Genome Medicine
- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
- (2018) Sean V Tavtigian et al. GENETICS IN MEDICINE
- ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
- (2018) Bruce D Gelb et al. GENETICS IN MEDICINE
- The ACMG/AMP reputable source criteria for the interpretation of sequence variants
- (2018) Leslie G Biesecker et al. GENETICS IN MEDICINE
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- (2018) Melissa A Kelly et al. GENETICS IN MEDICINE
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
- (2018) Ahmad N. Abou Tayoun et al. HUMAN MUTATION
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
- (2018) Edgar A. Rivera-Muñoz et al. HUMAN MUTATION
- ClinGen Allele Registry links information about genetic variants
- (2018) Piotr Pawliczek et al. HUMAN MUTATION
- Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
- (2018) Jessica L. Mester et al. HUMAN MUTATION
- Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
- (2018) Diane B. Zastrow et al. HUMAN MUTATION
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
- (2018) Kristy Lee et al. HUMAN MUTATION
- Updated recommendation for the benign stand-alone ACMG/AMP criterion
- (2018) Rajarshi Ghosh et al. HUMAN MUTATION
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
- (2018) Andrea M. Oza et al. HUMAN MUTATION
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
- (2018) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Genenames.org: the HGNC and VGNC resources in 2019
- (2018) Bryony Braschi et al. NUCLEIC ACIDS RESEARCH
- Database resources of the National Center for Biotechnology Information
- (2017) et al. NUCLEIC ACIDS RESEARCH
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- BioGPS and MyGene.info: organizing online, gene-centric information
- (2012) Chunlei Wu et al. NUCLEIC ACIDS RESEARCH
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started