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- W2558076607 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." @default.
- W2558076607 created "2016-12-08" @default.
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- W2558076607 date "2016-11-28" @default.
- W2558076607 modified "2023-10-16" @default.
- W2558076607 title "Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic" @default.
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- W2558076607 doi "https://doi.org/10.1055/s-0036-1593968" @default.
- W2558076607 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5423809" @default.
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- W2558076607 hasPublicationYear "2016" @default.
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