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nanotatoR: a tool for enhanced annotation of genomic structural variants.

Surajit BhattacharyaHayk BarseghyanEmmanuèle C DélotEric Vilain
Published in: BMC genomics (2021)
The extensive annotation enables users to rapidly identify potential pathogenic SVs, a critical step toward use of OGM in the clinical setting.
Keyphrases
  • copy number
  • rna seq
  • gene expression
  • genome wide
  • risk assessment