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aneuploidy

By a GenomeWeb staff reporter
NEW YORK (GenomeWeb News) – Sequenom said after the close of the market on Wednesday that it has filed a motion for a preliminary injunction against Aria Diagnostics.

By a GenomeWeb staff reporter
NEW YORK (GenomeWeb News) — Aria Diagnostics said today that it has raised $52.7 million in Series C funding that it will use to commercialize a prenatal test to detect fetal aneuploidies such as trisomy 21.

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.

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NPR reports that the patient who underwent a CRISPR-based treatment for sickle cell disease is doing well.

Resistance to ash dieback disease among some UK ash trees appears polygenic, the Independent reports.

In Nucleic Acids Research this week: sequencing strategy for flash-frozen brain tissue bank samples, new version of ChlamDB, and more.

A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.