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HomSI | A homozygous stretch identifier from next-generation sequencing data

Identifies homozygous stretches using new generation sequencing (NGS) data. HomSI was designed to define homozygous stretches in consanguineous families from NGS data. To identify and visualize the homozygous stretches, the software processes each variant and generates several graphs. It was evaluated using both a simulated dataset generated and a real dataset of three disease genes within the homozygous regions, which have been previously identified using a combination of exome and single-nucleotide polymorphism (SNP) microarray data.

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The homozygosity Stretch Identifier (HomSI) has the stringent settings of 5Mb window size and 10 kb sliding size that permits the capturing of wide spectrum of signatures of selections. Additionally, the resolution of identified signatures of selection by HomSI can be very high to the magnitude of 1 Kilo base pairs. This high resolution facilitates a better analysis of the selective sweep characteristics in relation to the specific genomic coordinates across every part of the genome.

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HomSI classification

HomSI specifications

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Academic Free License version 3.0
Homozygous Stretch Identifier from next-generation sequencing data
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HomSI support


  • Burcu Bakir-Gungor <>

Additional information



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Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM),Gebze, Kocaeli, Turkey; Department of Computer Engineering, Faculty of Engineering and Natural Sciences, Abdullah Gul University, Kayseri, Turkey

Funding source(s)

Supported by the Turkish State Planning Organization Research Grants, Grant Number: 108S420, UEKAE, BILGEM and The Scientific and Technology Research Council of Turkey (TUBITAK), Grant Number: K030-T439.

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