HomSI

HomSI is a tool designed to identify homozygous regions using deep sequence data from *.vcf files as input. Homozygosity mapping is important for identifying recessive disease genes, especially in consanguineous families. HomSI can detect the majority of homozygous regions found by microarray single nucleotide polymorphism genotype data and is freely available with an online manual.

Topic

Genomics;Evolutionary biology;Sequence analysis

Detail

  • Operation: Sequence analysis

  • Software interface: Graphical user interface

  • Language: Java

  • License: -

  • Cost: Free

  • Version name: 2.1

  • Credit: Turkish State Planning Organization Research Grants, UEKAE, B·LGEM, The Scientific and Technology Research Council of Turkey (TUBITAK)

  • Input: .vcf

  • Output: -

  • Contact: Burcu Bakir-Gungor bakirburcu@gmail.com

  • Collection: -

  • Maturity: -

Publications

  • HomSI: a homozygous stretch identifier from next-generation sequencing data.
  • Görmez Z, et al. HomSI: a homozygous stretch identifier from next-generation sequencing data. HomSI: a homozygous stretch identifier from next-generation sequencing data. 2014; 30:445-7. doi: 10.1093/bioinformatics/btt686
  • https://doi.org/10.1093/bioinformatics/btt686
  • PMID: 24307702
  • PMC: -

Download and documentation

< Back to DB search