SNPs Meet CNVs in Genome-Wide Association Studies HGV2007 Meeting Report 英文参考文献.docVIP

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SNPs Meet CNVs in Genome-Wide Association Studies HGV2007 Meeting Report 英文参考文献.doc

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SNPs Meet CNVs in Genome-Wide Association Studies HGV2007 Meeting Report 英文参考文献

SpecialReport SNPsMeetCNVsinGenome-WideAssociationStudies: HGV2007MeetingReport XavierEstivill1,2*,NancyJ.Cox3,StephenJ.Chanock4,Pui-YanKwok5,6,StephenW.Scherer7,AnthonyJ. Brookes8* 1Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), Barcelona, Spain, 2Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain, 3Departments of Medicine and Human Genetics, University of Chicago, Chicago, Illinois, United States of America, 4Division of Cancer Epidemiology and Genetics and Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, United States of America, 5Department of Dermatology, CardiovascularResearchInstitute,UniversityofCaliforniaSanFrancisco,California,UnitedStatesofAmerica,6InstituteforHumanGenetics,UniversityofCaliforniaSan Francisco,California,UnitedStatesofAmerica,7TheCentreforAppliedGenomics,PrograminGeneticsandGenomicBiology,ResearchInstitute,TheHospitalforSick Children,Toronto,Ontario,Canada,8DepartmentofGenetics,UniversityofLeicester,Leicester,UnitedKingdom The Ninth Meeting on Human Genome Variation and Complex Genome Analysis was held in Sitges, Spain, in September 2007. This annual meeting, which originally focused on single nucleotide polymorphisms (SNPs), broadened its scope from 2006 onward to encompass the entire range of genomic variability. Maintaining the relatively small format of 200 delegates, the meeting gathered leading investigators in copy number variation (CNV), SNP association studies, ultrasequen- cing, population genetics, statistical analysis, and database management,aswellasyounginvestigatorswhoinitiatedcareers in these fields. The two-and-a-half-day meeting combined sponsorshipbyseveralacademicinstitutionsandcorporateentities inavenuethatfacilitatedinteractionandcommunicationbetween theparticipants. understandingofthecontributionofthisclassofgeneticvariants to human disease and reduces the likelihood of being able to reliably‘‘tag’’CNVsevenifmostwer