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If It Makes You Feel Any Better, the Chairs Are Really Uncomfortable

The ASHG meeting is in full swing with sunburned scientists showing up to give their talks and everyone getting adjusted to local time here in Hawaii. (Yep, Daily Scan's on the scene.) This week, attendees got caught up on what the 1,000 Genomes project is up to — the University of Oxford's Gil McVean said to keep an eye out for data from the initiative's pilot studies in November or December. Also, Elaine Mardis discussed work on cancer genome sequencing, particularly a breast cancer quartet study, and Pardis Sabeti focused on how to search the genome for signals of natural selection, among others.

Later, ASHG president Ed McCabe spoke about the interesting hypothesis that perhaps dogs domesticated humans. Really, he says that it was more similar to co-evolution, but it's fun to think about Rover instilling in us a need to throw tennis balls around the yard.

Cancer genomics took center stage yesterday as Gaddy Getz discussed the role of next-generation sequencing in understanding cancer, replacing arrays and capillary sequencing. Then, UCLA's Stan Nelson went over his universal aligner tool, BFast.

Oxford's Peter Donnelly cited his recent work with the Wellcome Case Control Consortium when he discussed the need to be vigilant in analyzing copy number variation data – an interesting CNV on chromosome 5 on the reference genome turned out to really be on the X chromosome, accounting for the effect they saw in female study participants. In another session, Steve Scherer went over the CNVs implicated in autism spectrum disorders.

For more ASHG updates, check out Luke Jostins' posts rounding up talks from the second day as well as his chats with next-gen sequencing companies.

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.