Genoinfer

Genoinfer infers dense SNP genotypes across related individuals by integrating sparse linkage-scan marker data with high-resolution SNP genotypes to support more efficient genome-wide association studies and family-based mapping of complex disease loci.

Key Features:

• Integration of Sparse Marker Data: Leverages sparse marker data from linkage scans together with high-resolution SNP genotypes to enable genotype inference in relatives.
• High-Density Genotype Inference: Capable of inferring very large numbers of SNP genotypes, demonstrated on over 53 million SNPs in Centre d'Etude du Polymorphisme Humain (CEPH) families.
• Versatility Across Family Structures: Applicable to various family structures including nuclear families commonly used in complex disease gene mapping.
• Reduced Genotyping Burden and Increased GWAS Power: Reduces the number of required genotyping reactions and thereby increases efficiency and statistical power for genome-wide association studies.

Scientific Applications:

• Genome-wide association studies (GWAS): Provides high-density genotype data from limited direct genotyping to facilitate association testing across the genome.
• Family-based mapping of complex disease genes: Enables inference of genotypes across pedigrees to support linkage and association analyses in family studies.

Methodology:

Combines sparse marker data from linkage scans with dense SNP genotypes from a subset of individuals to infer genotypes across related individuals, enabling inference when direct genotyping is limited.