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

Tuukka Norri, Veli Maekinen

BIOINFORMATICS ADVANCES(2024)

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摘要
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.
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