Introduction

Haplotype assembly is the computational problem of reconstructing haplotypes in diploid organisms and is of fundamental importance for characterizing the effects of single-nucleotide polymorphisms on the expression of phenotypic traits. Haplotype assembly highly benefits from the advent of 'future-generation' sequencing technologies and their capability to produce long reads at increasing coverage. Existing methods are not able to deal with such data in a fully satisfactory way, either because accuracy or performances degrade as read length and sequencing coverage increase or because they are based on restrictive assumptions.By exploiting a feature of future-generation technologies-the uniform distribution of sequencing errors-we designed an exact algorithm, called HapCol, that is exponential in the maximum number of corrections for each single-nucleotide polymorphism position and that minimizes the overall error-correction score. We performed an experimental analysis, comparing HapCol with the current state-of-the-art combinatorial methods both on real and simulated data. On a standard benchmark of real data, we show that HapCol is competitive with state-of-the-art methods, improving the accuracy and the number of phased positions. Furthermore, experiments on realistically simulated datasets revealed that HapCol requires significantly less computing resources, especially memory. Thanks to its computational efficiency, HapCol can overcome the limits of previous approaches, allowing to phase datasets with higher coverage and without the traditional all-heterozygous assumption.Our source code is available under the terms of the GNU General Public License at http://hapcol.algolab.eu/bonizzoni@disco.unimib.itSupplementary data are available at Bioinformatics online.

Publications

  1. HapCol: accurate and memory-efficient haplotype assembly from long reads.
    Cite this
    Pirola Y, Zaccaria S, Dondi R, Klau GW, Pisanti N, Bonizzoni P, 2016-06-01 - Bioinformatics (Oxford, England)

Credits

  1. Yuri Pirola
    Developer

    Dipartimento di Informatica Sistemistica e Comunicazione (DISCo), Univ. degli Studi di Milano-Bicocca, Italy

  2. Simone Zaccaria
    Developer

    Dipartimento di Informatica Sistemistica e Comunicazione (DISCo), Univ. degli Studi di Milano-Bicocca, Italy

  3. Riccardo Dondi
    Developer

    Dipartimento di Scienze Umane e Sociali, Univ. degli Studi di Bergamo, Italy

  4. Gunnar W Klau
    Developer

    Life Sciences group, Centrum Wiskunde & Informatica (CWI)

  5. Nadia Pisanti
    Developer

    ERABLE Team, INRIA, Italy

  6. Paola Bonizzoni
    Investigator

    Dipartimento di Informatica Sistemistica e Comunicazione (DISCo), Univ. degli Studi di Milano-Bicocca, Italy

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Summary
AccessionBT000369
Tool TypeApplication
Category
PlatformsLinux/Unix
Technologies
User InterfaceTerminal Command Line
Download Count0
Country/RegionItaly
Submitted ByPaola Bonizzoni