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Updated: May 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
HGV2012: leveraging next-generation technology and large datasets to advance disease research
Nina Gonzaludo1, Hong-Xiang Zheng, Jiucun Wang
1Institute for Human Genetics and Cardiovascular Research Institute, University of California, San Francisco, CA, USA. Nina.Gonzaludo@ucsf.edu
Abstract:
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.
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