---
title: Alignment and Calling
description: Overall description of VarSome's pipelines
---

[Skip to content](https://docs.varsome.com/en/alignment-and-calling#main-content)

English

Show submenu for translations

[Submit a Support Request](https://docs.varsome.com/en/kb-tickets/new?hsLang=en) [Customer portal](https://docs.varsome.com/support-requests?hsLang=en)

[![varsome-new.png\]](https://docs.varsome.com/hs-fs/hubfs/varsome-new.png?height=40&name=varsome-new.png)](https://docs.varsome.com/en?hsLang=en)

- Editions
  
  Show submenu for Editions

    - [VarSome.com](https://landing.varsome.com/varsome)
    - [VarSome Clinical](https://landing.varsome.com/varsome-clinical)
    - [VarSome Premium](https://landing.varsome.com/varsome-premium)
    - [VarSome API](https://landing.varsome.com/varsome-api)
    - [VarSome Insights](https://landing.varsome.com/varsome-insights)
- About
  
  Show submenu for About

    - [The Company](https://saphetor.com/)
    - [Contact Us](https://landing.varsome.com/contact)
    - [Distributors](https://landing.varsome.com/distributors)
    - [Become a Partner](https://landing.varsome.com/become-varsome-partner)
    - [Community](https://varsome.com/community-contributions/)
    - [Cite VarSome!](https://varsome.com/about/general/varsome-citations/)
- Resources
  
  Show submenu for Resources

    - [Datasources](https://varsome.com/datasources/)
    - [Germline Classification](https://varsome.com/about/resources/germline-implementation/)
    - [Somatic Classification](https://varsome.com/about/resources/somatic-implementation/)
    - [CNV Classification](https://varsome.com/about/resources/sv-implementation/)
    - [Help Center](https://docs.varsome.com/)
    - [Library](https://landing.varsome.com/whitepapers)
    - [IVDR](https://landing.varsome.com/ivdr-whitepaper)
    - [Legal & Compliance](https://docs.varsome.com/en/legal-compliance)
- Blog
  
  Show submenu for Blog

    - [Platform Updates](https://updates.varsome.com/en)
    - [Company News](https://news.varsome.com/en)
    - [VarSome Annotated](https://blog.varsome.com/annotated)

Open main navigation

Close main navigation

- Editions
  
  Show submenu for Editions

    - [VarSome.com](https://landing.varsome.com/varsome)
    - [VarSome Clinical](https://landing.varsome.com/varsome-clinical)
    - [VarSome Premium](https://landing.varsome.com/varsome-premium)
    - [VarSome API](https://landing.varsome.com/varsome-api)
    - [VarSome Insights](https://landing.varsome.com/varsome-insights)
- About
  
  Show submenu for About

    - [The Company](https://saphetor.com/)
    - [Contact Us](https://landing.varsome.com/contact)
    - [Distributors](https://landing.varsome.com/distributors)
    - [Become a Partner](https://landing.varsome.com/become-varsome-partner)
    - [Community](https://varsome.com/community-contributions/)
    - [Cite VarSome!](https://varsome.com/about/general/varsome-citations/)
- Resources
  
  Show submenu for Resources

    - [Datasources](https://varsome.com/datasources/)
    - [Germline Classification](https://varsome.com/about/resources/germline-implementation/)
    - [Somatic Classification](https://varsome.com/about/resources/somatic-implementation/)
    - [CNV Classification](https://varsome.com/about/resources/sv-implementation/)
    - [Help Center](https://docs.varsome.com/)
    - [Library](https://landing.varsome.com/whitepapers)
    - [IVDR](https://landing.varsome.com/ivdr-whitepaper)
    - [Legal & Compliance](https://docs.varsome.com/en/legal-compliance)
- Blog
  
  Show submenu for Blog

    - [Platform Updates](https://updates.varsome.com/en)
    - [Company News](https://news.varsome.com/en)
    - [VarSome Annotated](https://blog.varsome.com/annotated)
- English
  
  Show submenu for translations
- [Submit a Support Request](https://docs.varsome.com/en/kb-tickets/new)
- [Customer portal](https://docs.varsome.com/support-requests)
- [Contact us](https://docs.varsome.com/en/kb-tickets/new)

[Contact us](https://docs.varsome.com/en/kb-tickets/new?hsLang=en)

 How can we help you?

- There are no suggestions because the search field is empty.

1. [VarSome Help Center](https://docs.varsome.com/en?hsLang=en)
2. [FAQ & Troubleshooting](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en)
3. [Pipelines](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#pipelines)

# Alignment and Calling

## Overall description of VarSome's pipelines

*[VarSome Clinical](https://landing.varsome.com/varsome-clinical?hsLang=en)* uses Sentieon's implementation of *bwa-mem* for aligning reads to the genome. For variant calling, it uses Sentieon's variant caller \[[1](https://www.frontiersin.org/articles/10.3389/fgene.2019.00736/full)\] for samples sequenced using a capture kit and Astra Zeneca's VarDict \[[2](https://github.com/AstraZeneca-NGS/VarDictJava)\] for those sequenced using amplicon kits.

- **Capture Kit** 
    - **Germline samples**:  
          - Single-sample: Sentieon (*bwa-mem*) aligner & Sentieon *DNAscope* caller

- - - Multi-sample: Sentieon (bwa-mem) aligner & Sentieon *DNAscope* caller. Please see [our article on joint calling](https://docs.varsome.com/en/joint-calling?hsLang=en).
    - **Somatic samples:** 
          - Single-sample: Sentieon (*bwa-mem*) aligner & Sentieon *TNhaplotyper2* caller.
          - Tumor/Normal: Sentieon (*bwa-mem*) aligner & Sentieon *TNhaplotyper2*caller. 

- **Amplicon Kit:** 
    - Both somatic and germline amplicon kit samples use  Sentieon (bwa-mem) aligner & *VarDict* caller*.*

### Default Workflow

1. Adapter trimming is normally done before the FASTQ file is generated. The FASTQ files *VarSome* gets are therefore already trimmed.
2. Read mapping
3. Primer clipping (amplicon-based samples)
4. Deduplication
5. Base-quality recalibration
6. Variant calling

### CNV analysis

We use the alignments already created by Sentieon's implementation of *bwa-mem*. For CNV calling we use:

- [ExomeDepth](https://pubmed.ncbi.nlm.nih.gov/22942019/): for targeted data such as whole-exome sequencing (WES) or gene panel samples and also for whole-genome sequencing (WGS) using multiple samples. 
- [DELLY](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436805/): for a single whole-genome sequence (WGS) sample.

### Related articles

- [Can you explain what "Call status" is?](https://docs.saphetor.com/what-is-call-status?hsLang=en)
- [Targeted/Untargeted Calling on VarSome Clinical](https://docs.varsome.com/en/targeted-calling-on-varsome-clinical?hsLang=en)

- [Registration & Billing](https://docs.varsome.com/en/registration-billing?hsLang=en#main-content)

    - [User account management](https://docs.varsome.com/en/registration-billing?hsLang=en#user-account-management)
    - [Storage management](https://docs.varsome.com/en/registration-billing?hsLang=en#storage-management)
    - [Pricing and Billing](https://docs.varsome.com/en/registration-billing?hsLang=en#pricing-and-billing)
    - [VarSome Clinical Tokens](https://docs.varsome.com/en/registration-billing?hsLang=en#varsome-clinical-tokens)
- [Management of Samples and Analyses](https://docs.varsome.com/en/management-of-samples-and-analyses?hsLang=en#main-content)

    - [Uploading files](https://docs.varsome.com/en/management-of-samples-and-analyses?hsLang=en#uploading-files)
    - [Managing Samples](https://docs.varsome.com/en/management-of-samples-and-analyses?hsLang=en#managing-samples)
    - [Managing Workflows](https://docs.varsome.com/en/management-of-samples-and-analyses?hsLang=en#managing-workflows)
    - [Launching analyses](https://docs.varsome.com/en/management-of-samples-and-analyses?hsLang=en#launching-analyses)
- [Analysis of the results](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#main-content)

    - [Analyses](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#analyses)
    - [Results](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#results)
    - [Filters](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#filters)
    - [Reporting](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#reporting)
    - [Quality Control](https://docs.varsome.com/en/analysis-of-the-results?hsLang=en#quality-control)
- [Legal & compliance](https://docs.varsome.com/en/legal-compliance?hsLang=en)
- [FAQ & Troubleshooting](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#main-content)

    - [Troubleshooting](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#troubleshooting)
    - [General](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#general)
    - [Filters](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#filters)
    - [User Interface](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#user-interface)
    - [Pipelines](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#pipelines)
    - [Features](https://docs.varsome.com/en/faq-troubleshooting?hsLang=en#features)
- [Scientific articles](https://docs.varsome.com/en/scientific-articles?hsLang=en)
- [VarSome API](https://docs.varsome.com/en/varsome-api?hsLang=en)

[![VarSome Logo](https://docs.varsome.com/hs-fs/hubfs/VarSome%20Logo.png?width=200&height=47&name=VarSome%20Logo.png "VarSome Logo")](https://varsome.com)

**Resources**  
[Query Examples](https://varsome.com/about/resources/examples/)  
[Germline Classification](https://varsome.com/about/resources/germline-implementation/)  
[Somatic Classification](https://varsome.com/about/resources/somatic-implementation/)  
[White Papers & Other Resources](https://varsome.com/library/)  
[Cite VarSome](https://varsome.com/about/general/varsome-citations/)  
[System Status](https://status.saphetor.com/)  
[Help Center](https://docs.varsome.com/en?hsLang=en)

<https://www.linkedin.com/showcase/varsome/> <https://twitter.com/varsome?lang=en> <https://www.youtube.com/channel/UCwEorND5-pl_9juijC1YGQA> <https://landing.varsome.com/varsome-clinical?hsLang=en>

**Legal**  
[Terms of Use](https://varsome.com/information/legal/terms/)  
[Privacy Policy](https://varsome.com/information/legal/privacy/)  
[Information Security](https://varsome.com/information/legal/information-security/)

Copyright © 2025, Saphetor SA