Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with su...

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Bibliographic Details
Published in:J Pediatr Genet
Main Authors: Bick, David, Fraser, Pamela C., Gutzeit, Michael F., Harris, Jeremy M., Hambuch, Tina M., Helbling, Daniel C., Jacob, Howard J., Kersten, Juliet N., Leuthner, Steven R., May, Thomas, North, Paula E., Prisco, Sasha Z., Schuler, Bryce A., Shimoyama, Mary, Strong, Kimberly A., Van Why, Scott K., Veith, Regan, Verbsky, James, Weborg, Arthur M., Wilk, Brandon M., Willoughby, Rodney E., Worthey, Elizabeth A., Dimmock, David P.
Format: Artigo
Language:Inglês
Published: Georg Thieme Verlag KG 2016
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5423809/
https://ncbi.nlm.nih.gov/pubmed/28496993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1593968
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