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Bioinformatics. 2010 Sep 15;26(18):2217-25. doi: 10.1093/bioinformatics/btq411. Epub 2010 Jul 11.

A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem.

Author information

1
Istituto di Informatica e Telemetica, CNR, Pisa, Italy. filippo.geraci@iit.cnr.it

Abstract

MOTIVATION:

Single nucleotide polymorphisms are the most common form of variation in human DNA, and are involved in many research fields, from molecular biology to medical therapy. The technological opportunity to deal with long DNA sequences using shotgun sequencing has raised the problem of fragment recombination. In this regard, Single Individual Haplotyping (SIH) problem has received considerable attention over the past few years.

RESULTS:

In this article, we survey seven recent approaches to the SIH problem and evaluate them extensively using real human haplotype data from the HapMap project. We also implemented a data generator tailored to the current shotgun sequencing technology that uses haplotypes from the HapMap project.

AVAILABILITY:

The data we used to compare the algorithms are available on demand, since we think they represent an important benchmark that can be used to easily compare novel algorithmic ideas with the state of the art. Moreover, we had to re-implement six of the algorithms surveyed because the original code was not available to us. Five of these algorithms and the data generator used in this article endowed with a Web interface are available at http://bioalgo.iit.cnr.it/rehap.

PMID:
20624781
PMCID:
PMC2935405
DOI:
10.1093/bioinformatics/btq411
[Indexed for MEDLINE]
Free PMC Article

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