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

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

Bioinform Adv

Department of Computer Science, University of Helsinki, FI-00014 Helsinki, Finland.

Published: March 2024

Summary: 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.

Availability And Implementation: 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10924279PMC
http://dx.doi.org/10.1093/bioadv/vbae027DOI Listing

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