Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?-Reference-Cited by-同舟云学术

Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

Published:2019-10-14 Issue:1 Volume:41 Page:7-16
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Keppens Cleo¹^ORCID,Tack Véronique¹^ORCID,Dufraing Kelly¹^ORCID,Rouleau Etienne²^ORCID,Ligtenberg Marjolijn J. L.³^ORCID,Schuuring Ed⁴^ORCID,Dequeker Elisabeth M. C.¹

Affiliation:

1. Department of Public Health and Primary Care, Biomedical Quality Assurance Research UnitUniversity of LeuvenLeuven Belgium

2. Gustave RoussyService de Génétique/Pathologie MoléculaireVillejuif Cedex France

3. Department of Pathology and Department of Human GeneticsRadboud University Medical CenterNijmegen The Netherlands

4. University Medical Center Groningen, Department of PathologyUniversity of GroningenGroningen The Netherlands

Funder

Institut National Du Cancer

Roche

AstraZeneca Schweiz

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23926

Reference27 articles.

1. Recommendations for a nomenclature system for human gene mutations

2. Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

3. Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer

4. HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme

5. Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer

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