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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:PLoS One
Κύριοι συγγραφείς: Deleye, Lieselot, Gansemans, Yannick, De Coninck, Dieter, Van Nieuwerburgh, Filip, Deforce, Dieter
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Public Library of Science 2018
Θέματα:
Research Article
Διαθέσιμο Online: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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