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

作者：Geraci Filippo^*

来源：Bioinformatics, 2010, 26(18): 2217-2225.

DOI：10.1093/bioinformatics/btq411

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.

• 出版日期2010-9