Beyond the Identification of Transcribed Sequences:
Functional, Evolutionary and Expression Analysis
12th International Workshop
October 25-28, 2002
Washington, DC

List of Abstracts * Speakers * Organizers * Authors * Original Announcement

Applying Genome-Wide SNP Analysis for Complex Disease Gene Discovery

Michael Shi
Sequenom, Inc., San Diego, CA 92121 USA
Telephone: 858-202-9122
Fax: 858-202-9127

Although extensively investigated in the past decade, genetic linkage and association studies for dissection of complex genetic traits have not yet delivered many fruitful results. Recently, genome-wide single nucleotide polymorphism (SNP) association studies are generating new hopes and becoming the method of choice for common disease gene identification. However, great technical challenges exist for this kind of approach, including a requirement of high-density informative SNP map, cost-effective technology for large- scale genotyping as well as high quality clinical sample and phenotype collection. Sequenom has developed novel approaches to provide solutions to address every aspect of the challenges to modern human genetics. By utilizing an integrated bioinformatics and a chip-based MALDI-TOF (MassARRAYTM) genotyping technology platform, we have generated a SNP map consisting over 300,000 validated gene-based and evenly spaced SNPs with confirmed allele frequencies across the entire human genome. Through internal collection effort and the recent acquisition of Gemini Genomics, we have access to over 50,000 distinct human clinical samples in many disease areas with enriched clinical information. In addition to case-control and age stratified healthy populations, many of our collection are ideal for complex genetic trait analysis by limiting the environmental factor impact, including unselected monozygous and dizygous twins, family and sibs, founder population and longitudinal disease cohorts. By implementing genome-wide high-throughput SNP analysis in our well-characterized clinical patient samples, we have identified many potential disease genes and novel drug targets that have significant impact on the human health.

  Abstract List

List of Abstracts * Speakers * Organizers * Authors * Original Announcement

Genetic Meetings