Main logo
?
tutorial arrow
×
Submit new tools
Share tools covering the current topic. Provide easy-to-follow guidelines to improve their usability.
Share new tools with the community
Sign up for free to promote the availability of bioinformatics tools

Autozygosity mapping software tools | Whole-exome sequencing data analysis

Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are likely to denote autozygosity, whereby both copies of the genome descend…
G T A T C G C T A
HomSI
Desktop

HomSI Homozygous Stretch Identifier from next-generation sequencing data

Identifies homozygous stretches using new generation sequencing (NGS) 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…

G T A T C G C T A
HomozygosityMap…
Web

HomozygosityMapper

A web-based application aimed at autozygosity mapping. HomozygosityMapper is…

A web-based application aimed at autozygosity mapping. HomozygosityMapper is independent of parameters like family structure or allele frequencies, the ‘homozygosity score’ is calculated simply…

G T A T C G C T A
BCFtools/RoH
Desktop

BCFtools/RoH

An extension to the BCFtools software package that detects regions of…

An extension to the BCFtools software package that detects regions of autozygosity in sequencing data, in particular exome data. BCFtools/RoH uses a hidden Markov model (HMM) to identify ROHs. The…

G T A T C G C T A
FSuite
Desktop

FSuite

A user-friendly pipeline developed for exploiting inbreeding information…

A user-friendly pipeline developed for exploiting inbreeding information derived from human genomic data.

G T A T C G C T A
FILTUS
Desktop

FILTUS

A standalone tool for working with annotated variant files, e.g. when searching…

A standalone tool for working with annotated variant files, e.g. when searching for variants causing Mendelian disease. Very flexible in terms of input file formats, FILTUS offers efficient filtering…

G T A T C G C T A
AgileVariantMap…
Desktop

AgileVariantMapper

Visualises sequence variant data from whole exome data, so that it is possible…

Visualises sequence variant data from whole exome data, so that it is possible to identify autozygous regions in consanguineous individuals.

G T A T C G C T A
AgileVCFMapper
Desktop

AgileVCFMapper

Performs both the mapping of disease loci by SNP genotyping and the analysis of…

Performs both the mapping of disease loci by SNP genotyping and the analysis of potentially deleterious variants using exome sequence variant data, in a single step. This method does not require…

G T A T C G C T A
H3M2
Desktop

H3M2

An approach for the detection of runs of homozygosity from individual…

An approach for the detection of runs of homozygosity from individual whole-exome sequencing data. H3M2 outperforms GERMLINE and PLINK applied to the same training dataset, and most importantly it is…

Information

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.