General Information
| Description | A homozygous stretch identifier from next-generation sequencing data |
| Homepage | http://www.igbam.bilgem.tubitak.gov.tr/softwares/HomSI |
Publications
HomSI: a homozygous stretch identifier from next-generation sequencing data
Summary:
In consanguineous families, as a result of inheriting the same genomic segments through both parents, the individuals have stretches of their genomes that are homozygous. This situation leads to the prevalence of recessive diseases among the members of these families. Homozygosity mapping is based on this observation, and in consanguineous families, several recessive disease genes have been discovered with the help of this technique. The researchers typically use single nucleotide polymorphism arrays to determine the homozygous regions and then search for the disease gene by sequencing the genes within this candidate disease loci. Recently, the advent of next-generation sequencing enables the concurrent identification of homozygous regions and the detection of mutations relevant for diagnosis, using data from a single sequencing experiment. In this respect, we have developed a novel tool that identifies homozygous regions using deep sequence data. Using *.vcf (variant call format) files as an input file, our program identifies the majority of homozygous regions found by microarray single nucleotide polymorphism genotype data.
Availability and implementation:
HomSI software is freely available at www.igbam.bilgem.tubitak.gov.tr/softwares/HomSI, with an online manual.
Contact:
bakirburcu@gmail.com
Supplementary information:
Supplementary data are available at Bioinformatics online.
Related Tools
Olorin
Published October 2012
Combining gene flow with exome sequencing in large family studies of complex disease
GeneCOST
Published July 2015
A novel scoring-based prioritization framework for identifying disease causing genes
DOSE
Published October 2014
An R/Bioconductor package for disease ontology semantic and enrichment analysis
FAIR Evaluation
Sorry, you must be signed in to evaluate this object.
