Cargando…

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

BACKGROUND: The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification. These guidelines...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884856/ https://www.ncbi.nlm.nih.gov/pubmed/31783775 http://dx.doi.org/10.1186/s13073-019-0683-1

Ejemplares similares

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation
por: Gelb, Bruce D., et al.
Publicado: (2018)

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)
por: Ritter, Deborah I., et al.
Publicado: (2019)

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs
por: DiStefano, Marina T., et al.
Publicado: (2019)

ClinGen Allele Registry links information about genetic variants
por: Pawliczek, Piotr, et al.
Publicado: (2018)

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
por: Kountouris, Petros, et al.
Publicado: (2021)

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
por: Patel, Ronak Y., et al.
Publicado: (2017)

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL
por: Coralea Stephanou, C, et al.
Publicado: (2022)

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
por: Preston, Christine G., et al.
Publicado: (2022)

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
por: Kelly, Melissa A, et al.
Publicado: (2018)

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
por: Shen, Jun, et al.
Publicado: (2019)

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
por: Morales, Ana, et al.
Publicado: (2021)

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards
por: Danos, Arpad M., et al.
Publicado: (2018)

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance
por: Zhang, Kuo, et al.
Publicado: (2022)

Accessing clinical-grade genomic classification data through the ClinGen Data Platform
por: Dalton, Karen P., et al.
Publicado: (2023)

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future
por: Milko, Laura V., et al.
Publicado: (2018)

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs
por: Williams, Janet L., et al.
Publicado: (2018)

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
por: Fan, Chunna, et al.
Publicado: (2021)

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
por: Pejaver, Vikas, et al.
Publicado: (2022)

22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation
por: Xue, Jiangyang, et al.
Publicado: (2021)

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
por: Munté, Elisabet, et al.
Publicado: (2023)

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
por: Riggs, Erin Rooney, et al.
Publicado: (2019)

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
por: Brnich, Sarah E., et al.
Publicado: (2019)

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Classifications in Malignant Hyperthermia Susceptibility
por: Johnston, Jennifer J., et al.
Publicado: (2021)

ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation
por: Lee, Seung-been, et al.
Publicado: (2022)

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies
por: Wu, David, et al.
Publicado: (2020)

Ribovore: ribosomal RNA sequence analysis for GenBank submissions and database curation
por: Schäffer, Alejandro A., et al.
Publicado: (2021)

ClinVar data parsing
por: Zhang, Xiaolei, et al.
Publicado: (2017)

Updates in Rhea – an expert curated resource of biochemical reactions
por: Morgat, Anne, et al.
Publicado: (2017)

Updates in Rhea – an expert curated resource of biochemical reactions
por: Morgat, Anne, et al.
Publicado: (2017)

MediaDive: the expert-curated cultivation media database
por: Koblitz, Julia, et al.
Publicado: (2022)

1143 GenMark ESensor Respiratory Viral Panel in an Inpatient Pediatric Population
por: Oliver, Sara, et al.
Publicado: (2014)

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP
por: Walker, Logan C., et al.
Publicado: (2023)

Panel discussion with the experts - Q&A interaction
por: Guichard, Romain, et al.
Publicado: (2022)

Demonstrating Equity Through the Convening of Expert Panels
por: Kauh, Tina J., et al.
Publicado: (2022)

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
por: Pérez-Palma, Eduardo, et al.
Publicado: (2019)

Ready, Set, Curate: 8 Learning Experts Tell You How
por: Betts, Ben
Publicado: (2015)

An expert study on hierarchy comparison methods applied to biological taxonomies curation
por: Sancho-Chavarria, Lilliana, et al.
Publicado: (2020)

Clin d'œil d'un monopôle?
Publicado: (1982)

Innovative methods for using expert panels in identifying implementation strategies and obtaining recommendations for their use
por: Waltz, Thomas J, et al.
Publicado: (2015)

Management of acromegaly in Latin America: expert panel recommendations
por: Barkan, Ariel, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_ml8i5m8gque94apvd5k9agvg4q