SNPsetter

SNPsetter manipulates and filters Affymetrix Single Nucleotide Polymorphism (SNP) metadata to identify autozygous regions and support gene mapping in studies of recessive disorders.

Key Features:

• Filtering Capabilities: Filters SNPs by chromosome location, allele frequency, and proximity to the last-exported SNP to refine datasets for downstream analysis.
• Integration with Autozygosity Mapping: Identifies autozygous regions within heterogeneous SNP datasets comprising familial (consanguineous pedigrees) and sporadic affected individuals.
• Facilitation of Rapid Gene Identification: Integrates information across diverse affected groups to accelerate identification of genes underlying recessive disorders from SNP metadata.

Scientific Applications:

• Autozygosity Mapping: Supports detection of runs of homozygosity and autozygous intervals from microarray SNP genotyping data for mapping recessive loci.
• Analysis of Heterogeneous Cohorts: Enables combined analysis of consanguineous pedigrees and isolated cases to address locus heterogeneity in genetic studies.
• Post-microarray SNP Data Processing: Processes Affymetrix SNP metadata to prepare and filter datasets for subsequent genetic analyses.

Methodology:

Performs systematic filtering and integration of Affymetrix SNP metadata to enable identification of autozygous regions across varied datasets, leveraging the speed of microarray SNP genotyping.