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., ...More

GENETICS IN MEDICINE, vol.18, no.6, pp.600-607, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 6
  • Publication Date: 2016
  • Doi Number: 10.1038/gim.2015.139
  • Title of Journal : GENETICS IN MEDICINE
  • Page Numbers: pp.600-607

Abstract

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.