How to cite¶
Parts of WhatsHap have been described in different articles. Please choose an appropriate citation depending on your use case.
If you use WhatsHap as a tool:
Marcel Martin, Murray Patterson, Shilpa Garg, Sarah O. Fischer, Nadia Pisanti, Gunnar W. Klau, Alexander Schoenhuth, Tobias Marschall.WhatsHap: fast and accurate read-based phasingbioRxiv 085050doi: 10.1101/085050
To refer to the core WhatsHap phasing algorithm:
Murray Patterson, Tobias Marschall, Nadia Pisanti, Leo van Iersel, Leen Stougie, Gunnar W. Klau, Alexander Schönhuth.WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing ReadsJournal of Computational Biology, 22(6), pp. 498-509, 2015.
To refer to the pedigree-phasing algorithm and the PedMEC problem:
Shilpa Garg, Marcel Martin, Tobias Marschall.Read-based phasing of related individualsBioinformatics 2016; 32 (12): i234-i242.
WhatsHap’s genotyping algorithm is described here:
Jana Ebler, Marina Haukness, Trevor Pesout, Tobias Marschall, Benedict Paten.Haplotype-aware genotyping from noisy long readsbioRxivdoi: 10.1101/293944
The HapChat algorithm is an alternative MEC solver able to handle higher coverages. It can be used through “whatshap phase –algorithm=hapchat”. It has been described in this paper:
Stefano Beretta, Murray Patterson, Simone Zaccaria, Gianluca Della Vedova, Paola Bonizzoni.HapCHAT: adaptive haplotype assembly for efficiently leveraging high coverage in long reads.BMC Bioinformatics, 19:252, 2018.
A parallelization of the core dynamic programming algorithm (“pWhatsHap”) has been described in
M. Aldinucci, A. Bracciali, T. Marschall, M. Patterson, N. Pisanti, M. Torquati.High-Performance Haplotype AssemblyProceedings of the 11th International Meeting on Computational Intelligence Methods for Bioinformatics and Biostatistics (CIBB), 245-258, 2015.
pWhatsHap is currently not integrated into the main WhatsHap source code. It is available in branch parallel in the Git repository.
If you use the polyploid phasing algorithm (
whatshap polyphase), please refer to
Sven D. Schrinner, Rebecca Serra Mari, Jana Ebler, Mikko Rautiainen, Lancelot Seillier,Julia J. Reimer, Björn Usadel, Tobias Marschall, Gunnar W. Klau.Haplotype threading: accurate polyploid phasing from long readsGenome Biology
If you use the polyploid phasing algorithm that takes pedigree information into account
whatshap geneticpolyphase), plese refer to
Sven Schrinner, Rebecca Serra Mari, Richard Finkers, Paul Arens,Björn Usadel, Tobias Marschall, Gunnar W. Klau.Genetic polyploid phasing from low-depth progeny samples.iScience 25(6), 2022.