Whole-genome sequencing and disease-gene detection
نویسندگان
چکیده
منابع مشابه
Whole-genome sequencing and disease-gene detection
Whole-genome sequencing (WGS) offers unique opportunities to identify rare variants that cause disease. We have developed a new software tool, VAAST (Variant Annotation, Analysis and Search Tool) that permits the identification of specific disease-causing mutations in WGS data. VAAST unambiguously identifies two disease-causing mutations in a family quartet in which both offspring have autosoma...
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Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
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ژورنال
عنوان ژورنال: BMC Proceedings
سال: 2012
ISSN: 1753-6561
DOI: 10.1186/1753-6561-6-s6-o7