Skip to main content
Premium Trial:

Request an Annual Quote

Eichler in Seattle, the Early Days of Next-Gen Sequencers, Funding Updates, and Copy Number Variation


Five years ago in Genome Technology, we reported that Evan Eichler was moving from Case Western Reserve University, where he had made a name for himself with his pioneering studies of genomic mutation hot spots, to the University of Washington in Seattle. Today, Eichler is still at Washington, where he has continued his cutting-edge research with investigations of structural variation both in comparative genomics, finding a pseudogene that appears to have regained function in the human-great ape lineage and in clinical studies, finding a microdeletion that may explain a particular form of mental retardation.

Another article in the September 2004 edition checked in on next-gen sequencing technologies. At the time, 454 Life Sciences had just begun its in-house service center as a proving grounds for its bead-based sequencer, and Solexa was optimizing the first instrument it planned to offer. 454 was later acquired by Roche and became the first next-gen sequencing platform on the market; meanwhile, Solexa was bought by Illumina and the platform has, according to recent market research reports, become the most prevalent new sequencer available. The story also reported on Nanofluidics and Helicos, both startups that were looking to stay under the radar for a while. Nanofluidics moved to California and became Pacific Biosciences, where it's one of the most watched third-gen sequencing startups out there; the company has said it plans to have a commercial offering by next year. Helicos has placed instruments at the Broad Institute, Dana-Farber Cancer Institute, and Stanford, and recently published a paper in Nature Methods demonstratings its "virtual terminator" nucleotides.

A year ago in GT, our careers section focused on how to win grants in a tight funding environment. The funding landscape has changed dramatically thanks to ARRA, or the American Recovery and Reinvestment Act that, in a somewhat controversial move, pumped some $10 billion into scientific research for the next two years. At last count, NIH had received more than 20,000 applications for these Challenge Grants, sparking the need for unprecedented numbers of review panels in a very short timeframe.

Also in last September's issue, GT checked in on copy number variation, one of the most recent and most promising additions to the systems biology realm. In the past 12 months, this research has gained even more momentum as it's being incorporated into larger genome-wide association studies and paired with other forms of structural variation to help scientists understand disease susceptibility, among other things.

The Scan

NFTs for Genome Sharing

Nature News writes that non-fungible tokens could be a way for people to profit from sharing genomic data.

Wastewater Warning System

Time magazine writes that cities and college campuses are monitoring sewage for SARS-CoV-2, an approach officials hope lasts beyond COVID-19.

Networks to Boost Surveillance

Scientific American writes that new organizations and networks aim to improve the ability of developing countries to conduct SARS-CoV-2 genomic surveillance.

Genome Biology Papers on Gastric Cancer Epimutations, BUTTERFLY, GUNC Tool

In Genome Biology this week: recurrent epigenetic mutations in gastric cancer, correction tool for unique molecular identifier-based assays, and more.