DistiLD

DistiLD partitions chromosomal regions into linkage disequilibrium (LD) blocks using HapMap data to map disease-associated single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWAS) onto genes and LD structure.

Key Features:

• LD block partitioning: Uses HapMap Project data to partition chromosomes into linkage disequilibrium (LD) blocks so SNPs within a block are grouped by LD and separated from SNPs not in LD.
• Projection of disease-associated variants and genes: Projects disease-associated SNPs from GWAS and annotated genes onto LD blocks to associate variants with nearby genes and LD context.
• Query and visualization of LD-mapped loci: Provides querying and visualization of SNPs and genes within LD blocks to identify which SNPs are in LD with specific genes.

Scientific Applications:

• GWAS interpretation: Maps GWAS-associated SNPs into LD structure to aid interpretation of association signals within chromosomal context.
• Candidate variant and gene prioritization: Helps pinpoint SNPs and genes that may be functionally relevant or causal for disease susceptibility and trait associations.
• Hypothesis generation for experimental follow-up: Supports generation of hypotheses regarding gene–disease relationships and guides selection of variants and genes for experimental validation.

Methodology:

Defines LD blocks across chromosomes using HapMap Project data and projects disease-associated SNPs and genes onto those LD blocks.