Thomas D. Willis

TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.

TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.

TL;DR: ‘Long-range haplotype’ methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population are developed.

TL;DR: A novel approach to high‐throughput mutation screening using small amounts of starting material is presented and a mutation spectrum across 30 genes in a large cohort of breast and colorectal cancers is revealed.

TL;DR: This work genotyped approximately 28,000 single nucleotide polymorphisms in three ethnic populations and ten primate species and finds evidence that selection may be acting in concert on classes of genes.