Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning

HIGHLIGHTS

• who: Renjie Tan from the Department of Systems Biology, Columbia University, New York, NY, USA, Department of Biomedical have published the article: Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning, in the Journal: (JOURNAL)
• what: The authors used a large-scale family-based exome sequencing dataset to create training data and evaluate the performance on samples with both exome sequencing and WGS data. The authors evaluate the performance of the method using withhold testing data and additional independent test datasets. Given that the purpose of the . . .
  

   

  

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