VarGrouper

Accurate genetic variant representation through nomenclature and annotation is essential for understanding functional consequence and properly noting the presence of variants across time, assays, and laboratories. Current variant calling algorithms detect single deletion –insertion variants as multiple indel and/or substitution variants from next-generation sequencing data. Consequently, these variants are separately annotated in bioinformatics pipelines, leading to inaccurate variant representation.

Source: Journal of Molecular Diagnostics - February 19, 2019 Category: Pathology Authors: Ryan J. Schmidt, Allison Macleay, Long Phi Le Tags: Technical advance Source Type: research