منابع مشابه
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.
In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generatio...
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The genome sequence database (GSDB) is a complete, publicly available relational database of DNA sequences and annotation maintained by the National Center for Genome Resources (NCGR) under a Cooperative Agreement with the US Department of Energy (DOE). GSDB provides direct, client- server access to the database for data contributions, community annotation and SQL queries. The GSDB Annotator, a...
متن کاملPseudoachalasia: a diagnostic challenge
Here, we present a case of a 78-year-old man that underwent gastrointestinal endoscopy because of one- monthhistory of dysphagia to liquids and solid foods with accompanying weight loss. On endoscopy, there was distalesophageal stenosis. Multiple biopsies were obtained. Histologic examination of the samples revealed normaltissue. The stenosis was treated by dilatation and abdomino pelvic comput...
متن کاملNext-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia
The widespread adoption of high-throughput next-generation sequencing (NGS) technology among the Australian life science research community is highlighting an urgent need to up-skill biologists in tools required for handling and analysing their NGS data. There is currently a shortage of cutting-edge bioinformatics training courses in Australia as a consequence of a scarcity of skilled trainers ...
متن کاملThe Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases.
New genomic technologies, such as exome, whole-genome and transcriptome sequencing, are transforming the genetic diagnosis of neuromuscular diseases and dramatically accelerating the discovery of new disease-associated genes. The increasingly widespread availability of these technologies creates both opportunities and challenges for neuromuscular disease researchers. Here we survey the current ...
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ژورنال
عنوان ژورنال: Nature
سال: 1999
ISSN: 0028-0836,1476-4687
DOI: 10.1038/46407