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, Daliya; Atkinson, Derek; De Rijk, Peter; Zimon, Magdalena; Chamova, Teodora; Mitev, Vanyo; YARAMIŞ, AHMET; Fabrizi, Gian; Topaloglu, Haluk; Tournev, Ivailo; Parma, Yesim; BATTALOĞLU, ESRA; Estrada-Cuzcano, Alejandro; Jordanova, Albena

doi:10.1038/gim.2015.139

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 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 18 Issue: 6
Publication Date: 2016
Doi Number: 10.1038/gim.2015.139
Journal Name: GENETICS IN MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.600-607
Open Archive Collection: AVESIS Open Access Collection
Hacettepe University Affiliated: Yes

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.