Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility

1. Genome architecture and sequence variation in health and disease

Availability of information on DNA sequence in human genomes and advances in technologies to amplify and sequence DNA have led to significant progress in delineating sequence differences that lead to disease. These techniques have also led to the discovery of sequence variants that occur in healthy individuals.

Studies of variation in the human genome are greatly facilitated through the availability of microarrays designed to detect single nucleotide polymorphisms (SNPs) that occur with frequencies greater than 1% to 5% in the population. Gene loci that are close to each other are often coinherited. SNP analyses can determine a series of alleles of loci in a specific region ...