Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss
نویسندگان
چکیده
منابع مشابه
Implementation and Optimization of Annotation and Interpretation Step of Next-Generation Sequencing Data for Non-Syndromic Autosomal Recessive Hearing Loss
Introduction: The precision and time required for analysis of data in next-generation sequencing (NGS) depends on many factors including the tools utilized for alignment, variant calling, annotation and filtering of variants, personnel expertise in data analysis and interpretation, and computational capacity of the lab and its optimization is a challenging task. Method: An application software...
متن کاملImplementation and Optimization of Annotation and Interpretation Step of Next-Generation Sequencing Data for Non-Syndromic Autosomal Recessive Hearing Loss
Introduction: The precision and time required for analysis of data in next-generation sequencing (NGS) depends on many factors including the tools utilized for alignment, variant calling, annotation and filtering of variants, personnel expertise in data analysis and interpretation, and computational capacity of the lab and its optimization is a challenging task. Method: An application software...
متن کاملTargeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss
The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each fami...
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Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Europeans and East Asians. The genetic etiology of IRD in this specific population still remains unkn...
متن کاملDiagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss
Hereditary hearing loss (HL) is a common sensory disorder, with an incidence of 1-2 per 1000 newborns, and has a genetic etiology in over 50% of cases. It occurs either as part of a syndrome or in isolation and is genetically very heterogeneous which poses a challenge for clinical and molecular diagnosis. We used exome sequencing to seek a genetic cause in a group of 56 subjects (49 probands) w...
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ژورنال
عنوان ژورنال: Journal of Otology
سال: 2014
ISSN: 1672-2930
DOI: 10.1016/j.joto.2014.11.003