Cargando…

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Data sharing between laboratories, clinicians, researchers, and patients is essential for improvements and standardization in genomic medicine; encouraging genomic data sharing (GDS) is a key activity of the National Institutes of Health (NIH)-funded Clinical Genome Resource (ClinGen). The ClinGen i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Azzariti, Danielle R., Riggs, Erin Rooney, Niehaus, Annie, Rodriguez, Laura Lyman, Ramos, Erin M., Kattman, Brandi, Landrum, Melissa J., Martin, Christa L., Rehm, Heidi L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2018
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793773/ https://www.ncbi.nlm.nih.gov/pubmed/29437798 http://dx.doi.org/10.1101/mcs.a002345

Ejemplares similares

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

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

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar
por: Harrison, Steven M., et al.
Publicado: (2017)

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)

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

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

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

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting
por: Riggs, Erin Rooney, et al.
Publicado: (2018)

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)

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)

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

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

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification
por: Accetturo, Matteo, 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)

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)

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)

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)

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

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)

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
por: Riggs, Erin Rooney, et al.
Publicado: (2014)

Variant Interpretation is a Component of Clinical Practice Among Genetic Counselors in Multiple Specialties
por: Wain, Karen E., et al.
Publicado: (2019)

ClinMicroNet — Sharing experiences and building knowledge virtually
por: Dwyer, Vincent
Publicado: (2003)

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

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

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)

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)

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

GRAF-pop: A Fast Distance-Based Method To Infer Subject Ancestry from Multiple Genotype Datasets Without Principal Components Analysis
por: Jin, Yumi, et al.
Publicado: (2019)

Implementing shared decision-making: consider all the consequences
por: Elwyn, Glyn, et al.
Publicado: (2016)

Diseased Meats and Foul Water, Considered as Causes of Disease
por: Lyman, Henry M.
Publicado: (1880)

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

CanVar: A resource for sharing germline variation in cancer patients
por: Chubb, Daniel, et al.
Publicado: (2016)

Editorial: Considering Biological Sex in Neurological Research
por: Biegon, Anat, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_cbuteq832u9akc1io1369e3c07