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Conference Paper (in Formal Publication) ()

PWHATSHAP: efficient haplotyping for future generation sequencing

Bracciali A, Aldinucci M, Patterson M, Marschall T, Pisanti N, Merelli I & Torquati M (2016) PWHATSHAP: efficient haplotyping for future generation sequencing In: Nonis A, Di Serio C, Lio' P, Tagliaferri R, Rizzo R (ed.), BioMed Central. 11th International Meeting on Computational Intelligence Methods for Bioinformatics and Biostatistics (CIBB 2014), 26.6.2014 - 28.6.2014, Cambridge, UK, BMC Bioinformatics, 17 (Supplement 11).


Haplotype phasing is an important problem in the analysis of genomics information. Given a set of DNA fragments of an individual, it consists of determining which one of the possible alleles (alternative forms of a gene) each fragment comes from. Haplotype information is relevant to gene regulation, epigenetics, genome-wide association studies, evolutionary and population studies, and the study of mutations. Haplotyping is currently addressed as an optimisation problem aiming at solutions that minimise, for instance, error correction costs, where costs are a measure of the con dence in the accuracy of the information acquired from DNA sequencing. Solutions have typically an exponential computational complexity. WhatsHap is a recent optimal approach which moves computational complexity from DNA fragment length to fragment overlap, i.e. coverage, and is hence of particular interest when considering sequencing technology's current trends that are producing longer fragments. 
Given the potential relevance of ecient haplotyping in several analysis pipelines, we have designed and engineered pWhatsHap, a parallel, high-performance version of WhatsHap. pWhatsHap is embedded in a toolkit developed in Python and supports genomics datasets in standard le formats. Building on WhatsHap, pWhatsHap exhibits the same complexity exploring a number of possible solutions which is exponential in the coverage of the dataset. The parallel implementation on multi-core architectures allows for a relevant reduction of the execution time for haplotyping, while the provided results enjoy the same high accuracy as that provided by WhatsHap, which increases with coverage. 
Due to its structure and management of the large datasets, the parallelisation of WhatsHap posed demanding technical challenges, which have been addressed exploiting a high-level parallel programming framework. The result, pWhatsHap, is a freely available toolkit that improves the eciency of the analysis of genomics information.

Haplotyping; High-performance computing; Future generation sequencing

EditorNonis A, Di Serio C, Lio' P, Tagliaferri R, Rizzo R
AuthorsBracciali Andrea, Aldinucci Marco, Patterson Murray, Marschall Tobias, Pisanti Nadia, Merelli Ivan, Torquati Massimo
Publication date22/09/2016
Date of public distribution22/09/2016
Publication date online2016
Date accepted by journal12/04/2016
PublisherBioMed Central
ISSN 1471-2105

bmc Bioinformatics: Volume 17, Issue Supplement 11

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