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HGV2012: leveraging next-generation technology and large datasets to advance disease research.

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.

SUBMITTER: Gonzaludo N

PROVIDER: S-EPMC3606662 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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HGV2012: leveraging next-generation technology and large datasets to advance disease research.

Gonzaludo Nina N Zheng Hong-Xiang HX Wang Jiucun J Chanock Stephen J SJ Jin Li L Scherer Stephen S Wijmenga Cisca C Kwok Pui-Yan PY Brookes Anthony J AJ

Human mutation 20130401 4

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 a ...[more]

PMID: 23315969

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