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within Megan E. Grove Remove this filter Biomedicine, general Remove this filter

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  1. Article

    Open Access

    Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

    Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we...

    Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk… in Nature Biotechnology (2022)

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  2. Article

    Open Access

    Clinical utility of genomic sequencing: a measurement toolkit

    Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to convent...

    Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont… in npj Genomic Medicine (2020)

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  3. No Access

    Article

    Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whol...

    Laure Frésard, Craig Smail, Nicole M. Ferraro, Nicole A. Teran, **n Li… in Nature Medicine (2019)