Identification of new copy number variation and the evaluation of a cnv detection tool for ngs panel data in polish familial hypercholesterolemia patients

HIGHLIGHTS

• who: Lena Rutkowska et al. from the Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, Lodz, Poland Department of Preventive Cardiology and Lipidology, Medical University of Lodz, Lodz, Poland have published the research: Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients, in the Journal: (JOURNAL) of 12/01/2016
• what: The aim of the study was to identify novel CNV changes in FH patients without detected pathogenic SNVs using targeted sequencing and evaluation of CNV calling tool (DECoN . . .
  

   

  

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