nPhase: an accurate and contiguous phasing method for polyploids

While genome sequencing and assembly are now routine, we do not have a full, precise picture of polyploid genomes. No existing polyploid phasing method provides accurate and contiguous haplotype predictions. We developed nPhase, a ploidy agnostic tool that leverages long reads and accurate short rea...

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Veröffentlicht in:Genome Biology 2021-04, Vol.22 (1), p.126-126, Article 126
Hauptverfasser: Abou Saada, Omar, Tsouris, Andreas, Eberlein, Chris, Friedrich, Anne, Schacherer, Joseph
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Sprache:eng
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Zusammenfassung:While genome sequencing and assembly are now routine, we do not have a full, precise picture of polyploid genomes. No existing polyploid phasing method provides accurate and contiguous haplotype predictions. We developed nPhase, a ploidy agnostic tool that leverages long reads and accurate short reads to solve alignment-based phasing for samples of unspecified ploidy (https://github.com/OmarOakheart/nPhase). nPhase is validated by tests on simulated and real polyploids. nPhase obtains on average over 95% accuracy and a contiguous 1.25 haplotigs per haplotype to cover more than 90% of each chromosome (heterozygosity rate >= 0.5%). nPhase allows population genomics and hybrid studies of polyploids.
ISSN:1474-760X
1474-7596
1465-6906
1474-760X
DOI:10.1186/s13059-021-02342-x