HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research


  • Contract grant sponsors: NIH Training Grant (T32 GM007175); Fudan University; the National Natural Science Foundation of China (C060501);National Genome Research Institute (R13 HG003953); EU Project GEN2PHEN; University of Leicester; McLaughlin Centre at the University of Toronto; Affymetrix; Illumina; Macrogen; Agilent Technologies; BGI Tech Solutions; Wuxi Genome Center (WuXi AppTec); Genesky Biotechnologies; Complete Genomics; Life Technologies; eBiotrade.

Correspondence to: Nina Gonzaludo, University of California, San Francisco, Department of Bioengineering & Therapeutic Sciences, Cardiovascular Research Institute, 555 Mission Bay Blvd South, MC-3118, Room 282, San Francisco, California 94158. E-mail: Nina.Gonzaludo@ucsf.edu


The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012: Shanghai, China, 6th–8th September 2012) was a stimulating workshop where researchers from academia and industry explored the latest progress, challenges, and opportunities in genome variation research. Key themes included advancements in next-generation sequencing (NGS) technology, investigation of common and rare diseases, employing NGS in the clinic, utilizing large datasets that leverage biobanks and population-specific cohorts, and exploration of genomic features.