نتایج جستجو برای: clinical exome sequencing
تعداد نتایج: 1271061 فیلتر نتایج به سال:
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...
Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medical researchers investigate both rare and common human disorders. The ability cost-effectively to generate genome-wide sequencing data with deep coverage in a short time frame is replacing approaches that focus on specific regions for gene discovery and clinical testing. While whole genome sequen...
Today, it is difficult to overestimate the new directions in pharmacotherapy of peripheral T-cell lymphomas (PTCL): immunotherapy, including adoptive, targeted therapy and chemotherapy. However, there are few biomarkers that predict response therapy. A big problem patients with refractory recurrent PTCL who do not respond such or demonstrate adverse events, which makes important personalize sea...
Abstract Background Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns potential false negatives due to incomplete breadth depth coverage for several exons clinically implicated genes. In some cases, a targeted gene panel testing may be dependable option ascertain true genomic variants known disease-associated We developed we...
X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a case of a young Indian boy suspected to have XLA. Immunophenotyping was performed for the affected child...
Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for syndrome, but given characteristic appearance and reproducible features in people with a mutation ABCC9 gene, conventional clinical picture that may suggest diagnosis high probability. This publication presents case study two-week-old female patient who was qualified testing on basi...
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید