NGS-based assay for frequent newborn inherited diseases: from development to implementation
T. Simakova, A. Bragin, M. Zaytseva, C. Clemente, M. Lewicka, J.C. Machado, J.L. Costa, M. Hughes, C. Hertz-Fowler, N. Petrova, A. Polyakov, R. Zinchenko, E. Kondratyeva, A. Pavlov
The paper develops and validates an NGS-based assay for diagnosing common newborn inherited diseases and reports its successful clinical implementation.
bioRxiv · Apr 26, 2016 · PreprintGenomics