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., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.6, ss.600-607, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 6
Basım Tarihi: 2016
Doi Numarası: 10.1038/gim.2015.139
Dergi Adı: GENETICS IN MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.600-607
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

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.