Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies

Lignende værker

• A practical method to detect SNVs and indels from whole genome and exome sequencing data
  af: Shigemizu, Daichi, et al.
  Udgivet: (2013)
• exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels
  af: Maranhao, B., et al.
  Udgivet: (2014)
• Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
  af: Sun, Dan, et al.
  Udgivet: (2020)
• Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
  af: Lin, Zhongdong, et al.
  Udgivet: (2017)
• Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
  af: Dong, Chengliang, et al.
  Udgivet: (2015)