Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic
作者： Pamela Fraser , Michael Gutzeit , Jeremy Harris , Tina Hambuch , Daniel Helbling
关键词:
摘要: 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 36% (8/22). Disease causing variants were identified SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, BCS1L. In 75% (6/8) diagnosed cases, affected treatment and/or medical surveillance. Additionally, one case demonstrated homozygous A18V variant VLDLR that appears be associated previously undescribed phenotype.
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