cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

Lignende værker

• Identification of copy number variants from exome sequence data
  af: Samarakoon, Pubudu Saneth, et al.
  Udgivet: (2014)
• Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
  af: Leidenroth, Andreas, et al.
  Udgivet: (2012)
• Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
  af: Gambin, Tomasz, et al.
  Udgivet: (2017)
• A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
  af: Sorte, Hanne S., et al.
  Udgivet: (2016)
• DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data
  af: Zhang, Yuanwei, et al.
  Udgivet: (2015)