Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
نویسندگان
چکیده
منابع مشابه
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of...
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It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...
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...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2019
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-019-0417-2