Cargando…

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight specific examples from the CDH1 and PTEN Variant Curat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ritter, Deborah I., Rao, Shruti, Kulkarni, Shashikant, Madhavan, Subha, Offit, Kenneth, Plon, Sharon E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2019
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824250/ https://www.ncbi.nlm.nih.gov/pubmed/31645350 http://dx.doi.org/10.1101/mcs.a004739

Ejemplares similares

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)

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

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
por: Kanavy, Dona M., et al.
Publicado: (2019)

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)

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

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

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)

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)

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)

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)

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)

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

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)

Somatic cancer variant curation and harmonization through consensus minimum variant level data
por: Ritter, Deborah I., et al.
Publicado: (2016)

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)

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)

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)

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)

Standard operating procedure for curation and clinical interpretation of variants in cancer
por: Danos, Arpad M., et al.
Publicado: (2019)

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)

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

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

Community curation of bioinformatics software and data resources
por: Ison, Jon, 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)

Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research
por: Madhavan, Subha, et al.
Publicado: (2018)

Rhea—a manually curated resource of biochemical reactions
por: Alcántara, Rafael, et al.
Publicado: (2012)

curatedPCaData: Integration of clinical, genomic, and signature features in a curated and harmonized prostate cancer data resource
por: Laajala, Teemu D, et al.
Publicado: (2023)

Data Curation
por: Altamimi, Rou'A
Publicado: (2021)

Curative Hypnosis
por: Magonet, A. P.
Publicado: (1954)

Of the Drug Curative
por: Wells, P. P.
Publicado: (1890)

Of the Drug Curative
por: Wells, P. P.
Publicado: (1890)

Of the Drug Curative
por: Wells, P. P.
Publicado: (1890)

tRNADB-CE: tRNA gene database curated manually by experts
por: Abe, Takashi, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_g356vjd5n2ntlj6uuufiuusqdg