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aneuploidy

Last Week's Clinical Sequencing Papers of Note

Using a sequencing method and proprietary algorithm based on technology licensed from Stephen Quake at Stanford University, the researchers correctly identified all trisomy 21 and trisomy 18 cases.

In the amended deal, a milestone payment for which Fluidigm may be eligible has been increased, and the time period during which Novartis may license the technology being developed was also modified.

A recent study adds to a growing body of evidence that Genomed's Aneufast QF-PCR test has the potential to be routinely used for prenatal aneuploidy detection in North America. However, in the US the test first needs 510(k) clearance, which depends on whether the Applied Biosystems genetic analyzer on which Aneufast is performed also receives diagnostic approval.

The company has filed a registration statement with the SEC for a proposed initial public offering worth up to $86.3 million, reviving plans for an IPO the company scrapped in September 2008 due to rapidly deteriorating economic conditions.

At the UBS Global Life Sciences Conference this week, Ron Lindsay, Sequenom's senior vice president of R&D, said that the company recently completed a technical study of its test and will soon embark on a validation study.

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NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.

According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.

A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.

In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.