TAILIEUCHUNG - The nature, pattern and function of human sequence variation

Published: 12 March 2004 Genome Biology 2004, 5:318 The electronic version of this article is the complete one and can be found online at © 2004 BioMed Central Ltd reports A report on the 2004 Keystone Symposium ‘Human Genome Sequence Variation and the Inherited Basis of Common Disease’, Breckenridge, USA, 8-13 January 2004. General Hospital, Boston, USA) described a genetic analysis of diabetes. He showed preliminary results suggesting that mitochondrial DNA is involved in type II diabetes and hypothesized that primary. | Meeting report The nature pattern and function of human sequence variation Evan E Eichler and Kelly A Frazer Addresses Department of Genetics Case Western Reserve University 10900 Euclid Avenue Cleveland OH 44106 USA. fPerlegen Sciences 2021 Stierlin Court Mountain View CA 94043 USA. Correspondence Evan Eichler. E-mail eee@. Kelly Frazer. E-mail Kelly_Frazer@ Published 12 March 2004 Genome Biology 2004 5 318 The electronic version of this article is the complete one and can be found online at http 2004 5 4 3l8 2004 BioMed Central Ltd A report on the 2004 Keystone Symposium Human Genome Sequence Variation and the Inherited Basis of Common Disease Breckenridge USA 8-13 January 2004. The Keystone Symposia on Human Genome Sequence Variation and the Inherited Basis of Common Disease and Quantitative Genetics in Model Organisms were held concurrently at the Beaver Run Resort this year. The dual nature of the meeting created a unique atmosphere in which participants were encouraged to cross-attend sessions. Indeed several sessions were held jointly between the two meetings creating the opportunity for interaction among a larger body of scientists than typically attend a Keystone meeting. This unusual format encouraged cross-fertilization of ideas among population quantitative and human geneticists as well as epidemiologists and genome scientists. This report is dedicated primarily to the proceedings within the Human Sequence Variation sessions. Polymorphisms and haplotype mapping Two presentations confronted the prevailing hypothesis that common diseases are likely to be due solely to common genetic variants such as those that can be identified by mapping frequent polymorphisms. Aravinda Chakravarti Johns Hopkins University Baltimore USA challenged the community by raising once again the unsettling specter that rare variants might in fact underlie a significant fraction of common disease. He presented data from his longstanding .

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