Article
Massively parallel sequencing of micro-manipulated cells targeting a comprehensive panel of disease-causing genes: A comparative evaluation of upstream whole-genome amplification methods.
PloS one - 1 Jan 2018
Deleye Lieselot, Gansemans Yannick, De Coninck Dieter, Van Nieuwerburgh Filip, Deforce Dieter
Abstract excerpt
Single Gene Disorders (SGD) are still routinely diagnosed using PCR-based assays that need to be developed and validated for each individual disease-specific gene fragment. The TruSight One sequencing panel currently covers 12 Mb of genomic content, including 4813 genes associated with a clinical phenotype. When only a limited number of cells are available, whole genome amplification (WGA) is required prior to...
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