نتایج جستجو برای: clinical exome sequencing

تعداد نتایج: 1271061  

Journal: :Pediatrics 2016
Isabelle Thiffault John Lantos

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...

Journal: :Journal of medical genetics 2011
Jacek Majewski Jeremy Schwartzentruber Emilie Lalonde Alexandre Montpetit Nada Jabado

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...

Journal: :PHARMACOECONOMICS. Modern pharmacoeconomics and pharmacoepidemiology 2023

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...

Journal: :BMC Bioinformatics 2021

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...

2016
Amit Rawat Shamsudheen Karuthedath Vellarikkal Ankit Verma Rijith Jayarajan Anju Gupta Surjit Singh Anita Chopra Rajive Kumar Vinod Scaria Sridhar Sivasubbu Saharuddin Bin Mohamad Amit Rawat Vinod Scaria Mohamed Badawy Hassan Tawfik Abdel-Naser

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...

Journal: :Journal of Education, Health and Sport 2022

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...

2017
Imane Boudellioua Rozaimi B. Mahamad Razali Maxat Kulmanov Yasmeen Hashish Vladimir B. Bajic Eva Goncalves-Serra Nadia Schoenmakers Georgios V. Gkoutos Paul N. Schofield Robert Hoehndorf

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...

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