Can't Understthe Variants in the Report? After Reading This Article, You'll Be Clear
When you receive an NGS (Next-Generation Sequencing) report, are you confused by the various letters, numbers, symbols used to describe gene variants? After bioinformatics analysis, sequencing data is annotated according to HGVS (Human Genome Variation Society) guidelines. Once you grasp the notation rules explained in this article, the report will become crystal clear.