This proposal seeks NHGRI funding to partially support US junior faculty members from under-represented groups and US trainees to attend the 13th and 14th International Meetings on Human Genome Variation and Complex Genome Analysis (HGV2012 and HGV2013) to be held at the Royal International Hotel in Shanghai, China from September 6-8, 2012, and at the Trinity College Dublin in Ireland from September 5-7, 2013. The goal of the HGV meeting series is to bring together researchers from the entire spectrum of human variation research to push the field towards a full understanding of the relationship between human variation and health. HGV2012 meeting is particularly timely because the field of human genome variation research is entering a critical phase, with the 1000 Genomes Project well underway, the identification of numerous genetic loci associated with many diseases by genome-wide association studies (GWAS), and an explosion of DNA sequence data from whole genome, whole exome, and whole transcriptome sequencing. With an increasing recognition that copy number polymorphisms/structural variations and de novo mutations are important causes of human diseases, the two main themes of HGV2012 will be """"""""Beyond single GWAS investigations"""""""" and """"""""Connecting genotype-phenotype research and the clinic (especially rare diseases)"""""""". We anticipate that the first results of """"""""medical sequencing"""""""" an """"""""personal genome sequencing"""""""" will begin to come out in late 2012 and early 2013 so a meeting such as HGV2013 will be a perfect forum to assess these results. As in previous meetings, HGV2012 and HGV2013 will bring together investigators in diverse fields to promote collaborations and move the field even further along. The unique feature of this three-day meeting is that it brings together top researchers in the many areas of human variation research, from radically new technologies that will change the field dramatically, to the mechanisms of how different types of human variations came about, to new statistical approaches for genetic studies in the whole genome sequencing era that take into account copy number variations and de novo mutations, to the study of molecular evolution based on comparative genome variation analysis, and to the social and ethical implications of human variation research.

Public Health Relevance

The HGV2012 and HGV2013 Meetings will bring together researchers in the field human genome variations from around the world to explore and discuss the full spectrum of variation analysis, from the origins of human variation to its implication to human health and disease to the challenge of managing and analyzing the enormous amount of data being generated in the field. A major focus of the meetings is to train young scientists in genomic research.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Conference (R13)
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Special Emphasis Panel (ZHG1-HGR-N (M2))
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Brooks, Lisa
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University of California San Francisco
Schools of Medicine
San Francisco
United States
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Gonzaludo, Nina; Zheng, Hong-Xiang; Wang, Jiucun et al. (2013) HGV2012: leveraging next-generation technology and large datasets to advance disease research. Hum Mutat 34:657-60
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Estivill, Xavier; Cox, Nancy J; Chanock, Stephen J et al. (2008) SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet 4:e1000068