HGVS Recommendations for the Description of Sequence Variants: 2016 Update - Dunnen - 2016 - Human Mutation - Wiley Online Library
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer. | Semantic Scholar
miRNA Nomenclature: A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants: Trends in Genetics
Molecular Pathology Reporting | SpringerLink
Genomic Testing Nomenclature
Introduction to Variants and Nomenclature - YouTube
PDF) HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing–Based Assays for Cancer - ScienceDirect
A variant by any name: quantifying annotation discordance across tools and clinical databases | bioRxiv
Sequence Variant Nomenclature
Standard Mutation Nomenclature in Molecular Diagnostics: Practical and Educational Challenges - ScienceDirect
SETH - SNP Extraction Tool for Human Variations
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. - Abstract - Europe PMC
Understand the HGVS nomenclature: A comprehensive guide - SOPHiA GENETICS
BRCA Exchange
Standardised Nomenclature for Mutation Reporting Who gives a.........#@!& ?
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer. | Semantic Scholar
Mutation nomenclature
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer. | Semantic Scholar
A variant by any name: quantifying annotation discordance across tools and clinical databases | Genome Medicine | Full Text
How to read variant information in the rare diseases test reports…
BRCA Exchange
Standardised Nomenclature for Mutation Reporting Who gives a.........#@!& ?
Understand the HGVS nomenclature: A comprehensive guide - SOPHiA GENETICS
