medRxivGenetic & Genomic MedicinePreprint
Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions
Dayne L. FileriD, Piotr A. MieczkowskiiD, Alicia BrandtiD, Kelly L. GilmoreiD, Bradford C. PowelliD, Jonathan S. BergiD, Kirk C. WilhelmseniD, Neeta L. VoraiD
Abstract
Whats already known about this topic?O_LISequencing-based noninvasive testing can detect large copy number abnormalities and some auto-somal dominant single-gene disorders C_LIO_LIExome sequencing (ES) on fetal samples provides 20% diagnostic yield for structural abnormalities after normal karyotype & microarray C_LI What does this study add?O_LIES on cell-free DNA in three gravid patients with suspected genetic disease in the fetus C_LIO_LIWe demonstrate broad sequencing approaches are limited by sampling and technical difficulties, concluding broad sequencing is currently inappropriate for noninvasive testing C_LI
- organism: human
- assay: whole-exome sequencing
- research focus: variant calling
- approach: statistical model
- Citations
- 0
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