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Using the Heliscope to Sequence Yourself

Stephen Quake, Stanford University researcher and co-founder of Helicos, and his team sequenced a male human of European descent (aka Quake himself) using the Heliscope, they report in Nature Biotechnology. Our sister publication GenomeWeb Daily News reports that it took four weeks and $48,000 in reagents to sequence Quake's genome. The machine, which the New York Times says is "about the size of a refrigerator," costs, according to Quake, "about $1 million, depending on how hard you bargain." With it, the researchers generated billions of reads, averaging 32 base pairs in length, and 28x average coverage. They have also determined about 2.8 million SNPs. "You have to have a strong stomach when you look at your own genome," Quake tells the Times. At Genetic Future, Daniel MacArthur compares the new Heliscope data to current data coming off second-generation platforms to determine "just how far the company has to go before it can hope to compete."

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.