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At Marco Island, New App for New Sequencers

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The possibilities seemed endless at the Advances in Genome Biology and Technology meeting this year. Continuing last year’s focus on new DNA sequencing technologies, this year’s conference in Marco Island, Fla., served up excitement not only about the tools themselves but about the new applications they’re enabling.

Of those, the most prominent seemed to be better, more accurate studies of genome-wide structural variation. During his keynote lecture, Aravinda Chakravarti from Johns Hopkins said the scientific community is “still poor in establishing genotype-phenotype correlations” and called for a complete census of genomic variation to help inform this topic. Evan Eichler from the University of Washington said the only good way to track structural variation is with “sequence-based resolution.”

The vendors trying to get their new sequencing platforms out the door are well aware of the trend. Kevin McKernan, a senior director at Applied Biosystems who headed up development of the Agencourt Personal Genomics technology before it was acquired by ABI, noted that “it’s been a fast year” in the genomics community. A year ago everyone was looking for SNPs, he said, and now it’s all about copy number variation, indels, and other structural variants.

Other vendors presenting on next-gen sequencing platforms included 454 Life Sciences, Helicos BioSciences, and Solexa (now part of Illumina).

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