Main menu

Haplotype threading: accurate polyploid phasing from long reads


Resolving genomes at haplotype level is crucial for understanding the evolutionary history of polyploid species and for designing advanced breeding strategies. As a highly complex computational problem, polyploid phasing still presents considerable challenges, especially in regions of collapsing haplotypes.

We present WhatsHap polyphase, a novel two-stage approach that addresses these challenges by (i) clustering reads using a position-dependent scoring function and (ii) threading the haplotypes through the clusters by dynamic programming.

We demonstrate on a simulated data set that this results in accurate haplotypes with switch error rates that are around three times lower than those obtainable by the current state-of-the-art and even around seven times lower in regions of collapsing haplotypes. Using a real data set comprising long and short read tetraploid potato sequencing data we show that WhatsHap polyphase is able to phase the majority of the potato genes after error correction, which enables the assembly of local genomic regions of interest at haplotype level. Our algorithm is implemented as part of the widely used open source tool WhatsHap and ready to be included in production settings.

Authors: Sven Schrinner, Rebecca Serra Mari, Jana W. Ebler, Mikko Rautiainen, Lancelot Seillier, Julia Reimer, Bjoern Usadel, Tobias Marschall, Gunnar W. Klau

入門

MinION Starter Packを購入 ナノポア製品の販売 シークエンスサービスプロバイダー グローバルディストリビューター

ナノポア技術

ナノポアの最新ニュースを購読 リソースと発表文献 Nanopore Communityとは

Oxford Nanoporeについて

ニュース 会社沿革 持続可能性 経営陣 メディアリソース & お問い合わせ先 投資家向け パートナー向け Oxford Nanopore社で働く 現在の募集状況 営業上の情報 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Japanese flag