WhatsHap: fast and accurate read-based phasing

Martin M, Patterson M, Garg S, O Fischer S, Pisanti N, Klau GW, Schönhuth A, Marschall T (2016)
bioRxiv.

Preprint | Veröffentlicht | Englisch
 
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Autor*in
Martin, Marcel; Patterson, Murray; Garg, Shilpa; O Fischer, Sarah; Pisanti, Nadia; Klau, Gunnar W; Schönhuth, AlexanderUniBi ; Marschall, Tobias
Abstract / Bemerkung
AbstractRead-based phasing allows to reconstruct the haplotypes of a sample purely from sequencing reads. While phasing is an important step for answering questions about population genetics, compound heterozygosity, and to aid in clinical decision making, there has been a lack of accurate, usable and standards-based software.WhatsHap is a production-ready tool for highly accurate read-based phasing. It was designed from the beginning to leverage third-generation sequencing technologies, whose long reads can span many variants and are therefore ideal for phasing. WhatsHap works also well with second-generation data, is easy to use and will phase not only SNVs, but also indels and other variants. It is unique in its ability to combine read-based with pedigree-based phasing, allowing to further improve accuracy if multiple related samples are provided.
Erscheinungsjahr
2016
Zeitschriftentitel
bioRxiv
Page URI
https://pub.uni-bielefeld.de/record/2941794

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Martin M, Patterson M, Garg S, et al. WhatsHap: fast and accurate read-based phasing. bioRxiv. 2016.
Martin, M., Patterson, M., Garg, S., O Fischer, S., Pisanti, N., Klau, G. W., Schönhuth, A., et al. (2016). WhatsHap: fast and accurate read-based phasing. bioRxiv
Martin, M., Patterson, M., Garg, S., O Fischer, S., Pisanti, N., Klau, G. W., Schönhuth, A., and Marschall, T. (2016). WhatsHap: fast and accurate read-based phasing. bioRxiv.
Martin, M., et al., 2016. WhatsHap: fast and accurate read-based phasing. bioRxiv.
M. Martin, et al., “WhatsHap: fast and accurate read-based phasing”, bioRxiv, 2016.
Martin, M., Patterson, M., Garg, S., O Fischer, S., Pisanti, N., Klau, G.W., Schönhuth, A., Marschall, T.: WhatsHap: fast and accurate read-based phasing. bioRxiv. (2016).
Martin, Marcel, Patterson, Murray, Garg, Shilpa, O Fischer, Sarah, Pisanti, Nadia, Klau, Gunnar W, Schönhuth, Alexander, and Marschall, Tobias. “WhatsHap: fast and accurate read-based phasing”. bioRxiv (2016).

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Preprint: 10.1101/085050

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