HomSI

HomSI identifies homozygous genomic stretches from next-generation sequencing (NGS) variant call (.vcf) data to support discovery and prioritization of recessive disease loci in consanguineous families.

Key Features:

• Input Compatibility: Accepts .vcf (variant call format) files generated from next-generation sequencing (NGS) pipelines.
• Identification Accuracy: Recovers the majority of homozygous regions typically detected using SNP genotype data from microarray analyses.
• Concurrent Analysis: Identifies homozygous stretches and detects sequence-level mutations from the same sequencing experiment.

Scientific Applications:

• Consanguineous family analysis: Maps extended homozygous regions in consanguineous pedigrees to prioritize candidate loci for recessive disease genes.
• Genetic research and clinical diagnostics: Enables combined homozygosity mapping and mutation detection from deep sequencing data to support gene discovery and diagnostic workflows.

Methodology:

Processes .vcf (variant call format) files from NGS to identify homozygous genomic stretches and detect mutations from the same sequencing data.