Cargando…

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services...

Descripción completa

Detalles Bibliográficos
Autores principales:	Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649/ https://www.ncbi.nlm.nih.gov/pubmed/28301460 http://dx.doi.org/10.1038/gim.2017.14

Ejemplares similares

ClinVar Is a Critical Resource to Advance Variant Interpretation
por: Rehm, Heidi L., et al.
Publicado: (2017)

Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing
por: Rehm, Heidi
Publicado: (2018)

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

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar
por: Harrison, Steven M., et al.
Publicado: (2019)

ClinVar: public archive of interpretations of clinically relevant variants
por: Landrum, Melissa J., et al.
Publicado: (2016)

ClinVar: improving access to variant interpretations and supporting evidence
por: Landrum, Melissa J, et al.
Publicado: (2018)

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
por: Azzariti, Danielle R., et al.
Publicado: (2018)

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)

Evaluating variants classified as pathogenic in ClinVar in the DDD Study
por: Wright, Caroline F., et al.
Publicado: (2020)

Sources of discordance among germ-line variant classifications in ClinVar
por: Yang, Shan, et al.
Publicado: (2017)

Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts
por: Butler III, Robert R., et al.
Publicado: (2018)

ClinVar: public archive of relationships among sequence variation and human phenotype
por: Landrum, Melissa J., et al.
Publicado: (2014)

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar
por: Famiglietti, M L, et al.
Publicado: (2019)

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification
por: Accetturo, Matteo, et al.
Publicado: (2020)

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar
por: Yang, Shan, et al.
Publicado: (2017)

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
por: Xiang, Jiale, et al.
Publicado: (2020)

Author Correction: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
por: Xiang, Jiale, et al.
Publicado: (2020)

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
por: Valenzuela-Palomo, Alberto, et al.
Publicado: (2022)

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
por: Sharo, Andrew G., et al.
Publicado: (2023)

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
por: van Rooij, Jeroen, et al.
Publicado: (2020)

Evaluation of Liftover Tools for the Conversion of Genome Reference Consortium Human Build 37 to Build 38 Using ClinVar Variants
por: Park, Kyoung-Jin, et al.
Publicado: (2023)

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
por: Richards, Sue, et al.
Publicado: (2015)

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

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

Submitted by the L3 collaboration to the LEPC
por: CERN. Geneva. LEP Experiments Committee
Publicado: (1982)

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)

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

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
por: Macnee, Marie, et al.
Publicado: (2023)

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

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
por: Niehaus, Annie, et al.
Publicado: (2019)

Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics
por: Ward, Alistair, et al.
Publicado: (2022)

We welcome you to submit your manuscript now and join our authors who have published with Clin Exp Vaccine Res
por: Kim, Jung Soo, et al.
Publicado: (2012)

Addendum 1 submitted by the L3 collaboration to LEPC
por: CERN. Geneva. LEP Experiments Committee
Publicado: (1982)

LHC's CMS collaboration submits first detector performance results
Publicado: (2009)

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)

FREQUENCY OF CLINVAR PATHOGENIC VARIANTS IN CHRONIC KIDNEY DISEASE PATIENTS SURVEYED FOR RETURN OF RESEARCH RESULTS AT A CLEVELAND PUBLIC HOSPITAL
por: Crawford, Dana C., et al.
Publicado: (2020)

First paper from Tevatron Run II submitted by CDF collaboration
Publicado: (2003)

Standard letter to collaborations having submitted documents to the Physics III Committee
por: Herz, A J
Publicado: (1972)

Keeping up with the genomes: scaling genomic variant interpretation
por: Rehm, Heidi L., et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_i41m39m7i2fbc865gpek2opspq