---
title: 'SanVar: Validation of single nucleotide variants with Sanger sequencing'
tags:
  - bioinformatics
  - variant calling
  - next generation sequencing
  - SNP
  - Sanger sequencing
  - Validation
authors:
 - name: Andrea Telatin
   orcid: 0000-0001-7619-281X
   affiliation: Gut Microbes and Health Programme, Quadram Institute Bioscience, Norwich (UK)
 - name: Ilena Egle Astrid Li Mura
   orcid: 0000-0002-8563-0049
   affiliation: BMR Genomics srl (IT)
 - name: Davide Campagna
   orcid:
   affiliation: CRIBI Biotechnology Center, University of Padua, Padua (IT)
date: 3 May 2019
bibliography: paper.bib
---

# Summary
Capillary sequencing (commonly referred to as Sanger sequencing) is still routinely used to validate single nucleotide variants detected with Next Generation Sequencing (NGS) resequencing approaches (e.g. human genome resequencing, exome sequencing, targeted resequencing)[@GenBank2015].

SanVar is a tool to allow for high throughput screening of Sanger validated variants (from trace files produced by Applied Biosystems capillary sequencers, in .ab1 format) checking a variant calling file (in VCF format).

# References
