Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
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...
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In 1980, Fred Sanger and Walter Gilbert were awarded the Nobel Prize in Chemistry for discovering novel ways for sequencing nucleic acids. In 2003, the human genome sequence was published, an effort that involved more than 3000 scientists from 6 countries. The work took 13 years to complete, at a cost of nearly $3 billion. Only 6 years later, nucleic acid sequencing technologies have advanced t...
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Next-generation sequencing (NGS) is the catch all terms that used to explain several different modern sequencing technologies which let us to sequence nucleic acids much more rapidly and cheaply than the formerly used Sanger sequencing, and as such have revolutionized the study of molecular biology and genomics with excellent resolution and accuracy. Over the past years, many academic companies...
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ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2012
ISSN: 1755-8794
DOI: 10.1186/1755-8794-5-17