swMATH ID: 35233
Software Authors: F. Geraci; M. Pellegrini
Description: ReHap: an Integrated System for the Haplotype Assembly Problem from Shotgun Sequencing Data. Single nucleotide polymorphism (SNP) is the most common form of DNA variation. The set of SNPs present in a chromosome (called the haplotype) is of interest in a wide area of applications in molecular biology and biomedicine. Personalized haplotyping of (portions of/all) the chromosomes of individuals is one of the most promising basic ingredients leading to effective personalized medicine (including diagnosis, and eventually therapy). Personalized haplotyping is getting now technically and economically feasible via steady progress in shotguns sequencing technologies (see e.g. the 1000 genomes project - A deep catalogue of human genetic variations). One key algorithmic problem in this process is to solve the haplotype assembly problem, (also known as the single individual haplotyping problem), which is the problem of reconstructing the two haplotype strings (paternal and maternal) using the large collection of short fragments produced by the PCR-based shotgun technology.
Homepage: http://data.cnr.it/data/cnr/individuo/prodotto/ID83725
Related Software: SpeedHap; HapCUT; ReFHap
Cited in: 1 Document

Cited by 1 Author

1 Lancia, Giuseppe G.

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