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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Detalles Bibliográficos
Autores principales: Povysil, Gundula, Tzika, Antigoni, Vogt, Julia, Haunschmid, Verena, Messiaen, Ludwine, Zschocke, Johannes, Klambauer, Günter, Hochreiter, Sepp, Wimmer, Katharina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518446/
https://www.ncbi.nlm.nih.gov/pubmed/28449315
http://dx.doi.org/10.1002/humu.23237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518446/
https://www.ncbi.nlm.nih.gov/pubmed/28449315
http://dx.doi.org/10.1002/humu.23237

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