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Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.

Thomas J. NicholasMichael J. CormierAaron R. Quinlan
Published in: BMC Bioinform. (2022)
Keyphrases
  • database
  • semantic annotation
  • databases
  • benchmark datasets
  • structural information
  • metadata
  • information retrieval
  • image segmentation
  • active learning
  • combining multiple
  • structural features
  • manual annotation