VarGrouper
Abstract
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...
Paper Details
Title
VarGrouper
Published Date
May 1, 2019
Volume
21
Issue
3
Pages
384 - 389
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