Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

مواد مشابهة

• Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
  حسب: Koshimizu, Eriko, وآخرون
  منشور في: (2013)
• A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
  حسب: Ryoko Fukai, وآخرون
  منشور في: (2015)
• Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
  حسب: Kondo, Yukiko, وآخرون
  منشور في: (2013)
• ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
  حسب: Miyatake, Satoko, وآخرون
  منشور في: (2017)
• KDM6A Point Mutations Cause Kabuki Syndrome
  حسب: Noriko Miyake, وآخرون
  منشور في: (2012)