Sequencing On Target

By Jeffrey M. Perkel Sequencing On Target Techniques for pulling out and sequencing selected areas of the genome It's time for a genomics reality check. Despite the constant, glowing coverage of speedy, low-cost next-generation DNA sequencing, whole-genome analysis, and consumer genomics, researchers still have no idea what the vast majority of human genomic DNA does, nor the functional consequence of variations in those sequences. Thus, few researchers

Written byJeffrey M. Perkel
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It's time for a genomics reality check.

Despite the constant, glowing coverage of speedy, low-cost next-generation DNA sequencing, whole-genome analysis, and consumer genomics, researchers still have no idea what the vast majority of human genomic DNA does, nor the functional consequence of variations in those sequences. Thus, few researchers actually need to sequence entire genomes—yet.

For the moment, most next-gen projects have more limited aims, such as "exome" sequencing (targeting that 1% of the genome, 250,000 exons or so, that actually encodes protein), immunogenomics (profiling individuals' antibody gene complement), or identifying variants in mere handfuls of genes.

Even if researchers actually desire whole-genome analyses, there's a financial angle to consider: No matter how cheap gene sequencing gets, it's still cheaper to sequence a fraction of the genome than to do the whole thing—especially when studying large populations.

"Hypothetically, if you could enrich for 1% of the genome which captures 90% ...

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