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Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet 2017 Jun;6(2):61-76

Date

05/13/2017

Pubmed ID

28496993

Pubmed Central ID

PMC5423809

DOI

10.1055/s-0036-1593968

Abstract

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 subsequent reanalysis, this increased to 36% (8/22). Disease causing variants were identified in SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, and BCS1L. In 75% (6/8) of diagnosed cases, the diagnosis affected treatment and/or medical surveillance. Additionally, one case demonstrated a homozygous A18V variant in VLDLR that appears to be associated with a previously undescribed phenotype.

Author List

Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP

Authors

Steven R. Leuthner MD Professor in the Pediatrics department at Medical College of Wisconsin
Paula E. North MD, PhD Professor in the Pathology department at Medical College of Wisconsin
Scott K. Van Why MD Professor in the Pediatrics department at Medical College of Wisconsin
James Verbsky MD, PhD Associate Professor in the Pediatrics department at Medical College of Wisconsin
Rodney E. Willoughby MD Professor in the Pediatrics department at Medical College of Wisconsin