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    At Work: MIT Technology Review: When even genome sequencing doesn't give a diagnosis
    Submitted by J.W. Bizzaro; posted on Friday, April 21, 2017



    The analysis, presented last month at the Annual Clinical Genetics Meeting in Phoenix, showed that whole-genome sequencing can sometimes provide a diagnosis when previous whole-exome sequencing couldn't. But it also reveals that the genome is still not well understood and that scientists don't yet know all the alterations in the genome that may cause disease.

    Isaac Kohane, of Harvard Medical School's Department of Biomedical Informatics, says people analyzing a genome might simply miss a cause lying in plain sight – a so-called false negative.

    "Our ability to distinguish what actually might cause disease is still quite crude," Kohane says. "So we have an unknown false-negative rate."

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