# Tackling reference bias in genotyping by using founder sequences with PanVC 3

**Authors:** Tuukka Norri, Veli Mäkinen

PMC · DOI: 10.1093/bioadv/vbae027 · Bioinformatics Advances · 2024-03-04

## TL;DR

PanVC 3 is a new software tool that improves genotyping accuracy by reducing reference bias and better calling insertions and deletions.

## Contribution

PanVC 3 introduces a novel approach using founder sequences with known variants to reduce reference bias in genotyping.

## Key findings

- Using founder sequences with known variants reduces reference bias in genotyping.
- Precision of insertion and deletion calling is improved with PanVC 3.

## Abstract

Overcoming reference bias and calling insertions and deletions are major challenges in genotyping. We present PanVC 3, a set of software that can be utilized as part of various variant calling workflows. We show that, by incorporating known genetic variants to a set of founder sequences to which reads are aligned, reference bias is reduced and precision of calling insertions and deletions is improved.

PanVC 3 and its source code are freely available at https://github.com/tsnorri/panvc3 and at https://anaconda.org/tsnorri/panvc3 under the MIT licence. The experiment scripts are available at https://github.com/algbio/panvc3-experiments.

## Full-text entities

- **Diseases:** PanVC 3 (MESH:C537153)

## Full text

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## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10924279/full.md

## References

28 references — full list in the complete paper: https://tomesphere.com/paper/PMC10924279/full.md

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Source: https://tomesphere.com/paper/PMC10924279