Parents’ perceptions of personal utility of exome sequencing results
نویسندگان
چکیده
منابع مشابه
construction and validation of the translation teacher competency test and the scale of students’ perceptions of translation teachers
the major purpose of this study was to develop the translation teacher competency test (ttct) and examine its construct and predictive validity. the present study was conducted in two phases: a qualitative phase as well as a quantitative phase. in the first phase of the study, the author attempted to find out the major areas of competency required for an academic translation teacher. the second...
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...
متن کاملDiagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
Objective To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs). Methods We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted and broad diagnostic gene lists were identified. Prior diagnostic tests were extracted from the pa...
متن کاملWhole Exome Sequencing
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متن کاملExome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
Ion channel mutations are an important cause of rare Mendelian disorders affecting brain, heart, and other tissues. We performed parallel exome sequencing of 237 channel genes in a well-characterized human sample, comparing variant profiles of unaffected individuals to those with the most common neuronal excitability disorder, sporadic idiopathic epilepsy. Rare missense variation in known Mende...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2019
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-019-0730-8