Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Saunders, Carol; Miller, Neil; Soden, Sarah; L. Dinwiddie, Darrell; Noll, Aaron; Abu Alnadi, Noor; Andraws, Nevene; Patterson, Melanie; Ann Krivohlavek, Lisa; Fellis, Joel; Humphray, Sean; Saffrey, Peter; Kingsbury, Zoya; Weir, Jacqueline; Betley, Jason; Grocock, Russell; H. Margulies, Elliott; Farrow, Emily; Artman, Michael; P. Safina, Nicole; E. Petrikin, Joshua; P. Hall, Kevin; F. Kingsmore, Stephen

doi:10.1126/scitranslmed.3004041

Public

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Published in Science Translational Medicine • Oct 3, 2012

Authors:

Carol Saunders

Neil Miller

Sarah Soden

Abstract

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease presentations are often undifferentiated at birth. More than 3500 monogenic diseases have been characterized, but clinical testing is available for only some of them and many feature clinical and genetic heteroge...

Subject

Medicine

Disease

Medical diagnosis

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