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.

doi:10.1038/gim.2015.139

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Article

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.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2016

Kancheva Daliya, Atkinson Derek, De Rijk Peter, Zimon Magdalena, Chamova Teodora, Mitev Vanyo, Yaramis Ahmet, Maria Fabrizi Gian, Topaloglu Haluk, Tournev Ivailo, Parman Yesim, Parma Yesim, Battaloglu Esra, Estrada-Cuzcano Alejandro, Jordanova Albena

Abstract excerpt

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. METHODS: Basic optimization of homozygosity mapping parameters was...

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PMID: 26492578
DOI: 10.1038/gim.2015.139

Genes

GAN
GBA2
ZFYVE26

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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