Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing


Kancheva D., Atkinson D., De Rijk P., Zimon M., Chamova T., Mitev V., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.6, ss.600-607, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Konu: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.139
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayıları: ss.600-607

Özet

Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity Mapping in a single step.