Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
Nicole Ruiz-Schultz, David Sant, Stevie Norcross, Warunee Dansithong, Kim Hart, Bryce Asay, Jordan Little, Krystal Y. Chung, Kelly F. Oakeson, Erin L. Young, Karen Eilbeck, Andreas Rohrwasser
Topics & Concepts
Exome sequencingExomeComputational biologySanger sequencingDNA sequencingIn silicoConcordanceGeneticsBioinformaticsMedicineBiologyGeneMutationGenomics and Rare DiseasesImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research Advances