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ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.

Mikhail GudkovLoïc ThibautMatloob KhushiGillian M BlueDavid S WinlawSally L DunwoodieEleni Giannoulatou
Published in: BMC bioinformatics (2023)
ConanVarvar is a useful instrument for primary analysis in disease sequencing studies, where large CNVs could be the cause of disease.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • electronic health record
  • gene expression
  • machine learning
  • loop mediated isothermal amplification
  • label free