Massively parallel sequencing of micro-manipulated cells targeting a comprehensive panel of disease-causing genes: A comparative evaluation of upstream whole-genome amplification methods

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 ph...

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Udgivet i:PLoS One
Main Authors: Deleye, Lieselot, Gansemans, Yannick, De Coninck, Dieter, Van Nieuwerburgh, Filip, Deforce, Dieter
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5919401/
https://ncbi.nlm.nih.gov/pubmed/29698522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0196334
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