panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics

Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy‐number variations (CNVs) in addition to single‐nucleotide variants and small insertions/deletions. However, existing computational CNV detection meth...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Povysil, Gundula, Tzika, Antigoni, Vogt, Julia, Haunschmid, Verena, Messiaen, Ludwine, Zschocke, Johannes, Klambauer, Günter, Hochreiter, Sepp, Wimmer, Katharina
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518446/
https://ncbi.nlm.nih.gov/pubmed/28449315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23237
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