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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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23andMe is offering early customers re-testing on newer chips for a fee, Wired reports.

He Jiankui is no longer affiliated with Direct Genomics Biotechnology, the single molecule sequencing company he founded, Nikkei Asian Review reports.

Newsweek writes about the hopes for precision medicine in cancer, but also challenges getting it to patients.

In Genome Research this week: genomic architecture of glioblastoma, predictive computational approach to estimate SNP fitness, and more.