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 Informatics, Columbia University, New York, NY, USA and , JP Sulzberger Columbia Genome Center, Columbia University, New York, NY, USA 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 . . .
  

   

  

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