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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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BRCA-analyzer: Automatic workflow for processing NGS reads of BRCA1 and BRCA2 genes

Andrey Kechin1, Evgeniy Khrapov2, Uljana Boyarskikh2

  • 1Institute of Chemical Biology and Fundamental Medicine SB RAS, Novosibirsk, 630090, Russia; Novosibirsk State University, Novosibirsk, 630090, Russia.

Computational Biology and Chemistry
|November 9, 2018
PubMed
Summary

BRCA-analyzer is a new tool for processing next-generation sequencing (NGS) data from BRCA1/2 genes. It accurately identifies pathogenic variants, outperforming other workflows in detecting mutations for improved genetic diagnostics.

Keywords:
Automatic workflowBRCANGS toolsQiagen data analysis

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