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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...
שמור ב:
| הוצא לאור ב: | Hum Mutat |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2017
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| נושאים: | |
| גישה מקוונת: | 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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