IBDfinder

IBDfinder identifies regions of Identity By Descent (IBD) by plotting and collating runs of homozygous single nucleotide polymorphism (SNP) genotypes ordered by physical or genetic distance to support autozygosity mapping of recessive genes in consanguineous pedigrees.

Key Features:

• Homozygosity plotting and collation: Plots and collates runs of homozygous single nucleotide polymorphism (SNP) genotypes ordered by physical or genetic distance.
• Microarray SNP data handling: Processes genotype data derived from microarray SNP analysis for autozygosity mapping.
• Integration of heterogeneous datasets: Integrates genotype information from diverse groups of affected individuals, including familial and isolated (sporadic) cases, allowing consideration of ancestry and locus heterogeneity.

Scientific Applications:

• Autozygosity mapping of recessive genes: Maps recessive disease genes by identifying autozygous intervals in individuals from consanguineous pedigrees.
• Rapid gene identification from small cohorts: Supports rapid gene identification using genotype data from small numbers of affected individuals within consanguineous pedigrees.
• Analysis of heterogeneous case sets: Facilitates studies combining familial and sporadic cases to account for locus heterogeneity and varying ancestry.

Methodology:

Plots and orders runs of homozygous SNP genotypes by physical or genetic distance and collates these runs to identify regions identical by descent (IBD).