Whole-exome sequencing for clinical diagnostics
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...
متن کاملExome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.
In the last few years, next-generation sequencing (NGS) has revolutionized the approaches by which we interrogate the genetic causes of rare single-gene disorders (1 ). More recently, NGS has been rapidly moving into the clinical diagnostics arena and transforming the practice of molecular diagnostics testing. Many NGSbased tests for multigene panels are available in clinical laboratories. Now,...
متن کاملWhole Exome Sequencing
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متن کاملClinical whole-exome sequencing for the diagnosis of mendelian disorders.
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. RESULTS We present data...
متن کاملMolecular findings among patients referred for clinical whole-exome sequencing.
IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings su...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2016
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg.2016.38