Recent Developments in Genomewide Association Scans: A Workshop Summary and Review

• Published in: American journal of human genetics Vol. 77; no. 3; pp. 337 - 345
• Main Authors: Thomas, Duncan C., Haile, Robert W., Duggan, David
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.09.2005; University of Chicago Press; Cell Press; The American Society of Human Genetics
• Subjects: Biological and medical sciences; Data Interpretation, Statistical; General aspects. Genetic counseling; Genetic Diseases, Inborn - genetics; Genetic linkage; Genetic Markers - genetics; Genetic testing; Genetic Testing - methods; Genetic Testing - trends; Genomics - methods; Genomics - trends; Genotype; Genotype & phenotype; Medical genetics; Medical sciences; Research Design; Workshops; Human; Association; Development; Genetics; Review; Genome; Bibliographic review
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/432962

With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000–1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design and analyze them. In April 2005, an international group of >100 investigators convened at the University of Southern California over the course of 2 days to compare notes on planned or ongoing studies and to debate alternative technologies, study designs, and statistical methods. This report summarizes these discussions in the context of the relevant literature. A broad consensus emerged that the time was now ripe for launching such studies, and several common themes were identified—most notably the considerable efficiency gains of multistage sampling design, specifically those made by testing only a portion of the subjects with a high-density genomewide technology, followed by testing additional subjects and/or additional SNPs at regions identified by this initial scan.