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

Overcoming reference bias and calling insertions and deletions are major challenges in genotyping. We present , 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...

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Veröffentlicht in:Bioinformatics advances 2024, Vol.4 (1), p.vbae027-vbae027
Hauptverfasser: Norri, Tuukka, Mäkinen, Veli
Format: Artikel
Sprache:eng
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Zusammenfassung:Overcoming reference bias and calling insertions and deletions are major challenges in genotyping. We present , 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.
ISSN:2635-0041
2635-0041
DOI:10.1093/bioadv/vbae027