Article
Clinical Implementation and Validation of Automated Human Genome Variation Society (HGVS) Nomenclature System for Next-Generation Sequencing-Based Assays for Cancer.
The Journal of molecular diagnostics : JMD - 1 Sept 2018
Callenberg Keith M, Santana-Santos Lucas, Chen Liang, Ernst Wayne L, De Moura Michelle B, Nikiforov Yuri E, Nikiforova Marina N, Roy Somak
Abstract excerpt
Human Genome Variation Society (HGVS) nomenclature is a de facto clinical standard for reporting DNA sequence variants. With increasing use of high-throughput sequencing, manual generation of HGVS nomenclatures for all variants is impractical and error-prone. It is therefore beneficial to include one or more HGVS generator tools in next-generation sequencing (NGS) bioinformatics pipelines to enable automated,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.