Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

被引：0
作者：
Elizabeth Worthey
David Bick
David Dimmock
Mary Shimoyama
Regan Veith
George Kowalski
Bradley Taylor
Brandon Wilk
Sharon Tsaih
Jeremy Harris
Michael Tschannen
Jaime Wendt-Andrae
Ken Brodie
Howard Jacob
机构：
[1] The Medical College of Wisconsin,Human and Molecular Genetics Center
[2] The Medical College of Wisconsin,The Department of Pediatrics
[3] The Children's Hospital of Wisconsin,The Department of Surgery
[4] The Medical College of Wisconsin,The Department of Physiology
[5] The Medical College of Wisconsin,undefined
来源：
BMC Proceedings | / 6卷 / Suppl 6期
关键词：
Whole Genome Sequencing; Electronic Health Record; Causative Mutation; Genetic Clinic; Pilot Program;
D O I：
10.1186/1753-6561-6-S6-O11
中图分类号：
学科分类号：
摘要：
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  • [1] Worthey EA(2011)Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease Genet Med 13 255-262
  • [2] Mayer AN(2012)Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure J Pediatr Gastroenterol Nutr 54 291-294
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