AutoSNPa

AutoSNPa identifies regions of identity by descent (IBD) and autozygosity from SNP genotype data to support mapping of recessive disease loci in inbred families.

Key Features:

• Genotype visualization: Color-codes SNP genotype data organized by physical or genetic distance to reveal contiguous homozygous segments indicative of autozygosity.
• Autozygous region detection: Detects and highlights candidate IBD regions for mapping recessive disease genes in inbred pedigrees.
• Scalable processing: Handles large-scale whole-genome SNP genotype datasets generated by modern genotyping platforms.

Scientific Applications:

• Recessive disease mapping: Locates autozygous regions to identify candidate loci underlying recessive disorders in highly inbred families.
• Disease-gene discovery: Prioritizes genomic intervals that may harbor disease-causing genes for further genetic analysis.
• Follow-up analysis support: Enables scrutiny and downstream analysis of identified candidate regions to investigate their potential role in disease.

Methodology:

Integrates and visualizes SNP genotype data and organizes loci by physical or genetic distance to highlight regions of IBD and autozygosity.