Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis
نویسندگان
چکیده
منابع مشابه
Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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PURPOSE Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targ...
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Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing. There are no published data to guide clinicians in this process. In a retrospective study on 93 patients who underwent clinical WES, we set out to assess and ...
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متن کاملGenetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects ...
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ژورنال
عنوان ژورنال: Journal of Pediatric Gastroenterology & Nutrition
سال: 2019
ISSN: 0277-2116,1536-4801
DOI: 10.1097/mpg.0000000000002258