Challenges of diagnostic exome sequencing in an inbred founder population
نویسندگان
چکیده
منابع مشابه
Challenges of diagnostic exome sequencing in an inbred founder population
Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia (LCH), a clinically and genetically heterogeneous diagnostic category. Data analysis identified high levels of unreported inbreeding, with multiple rare/novel "deleterious" variants occurring in the homozygous state in the affected individ...
متن کاملChallenges in Whole Exome Sequencing: An Example from Hereditary Deafness
Whole exome sequencing provides unprecedented opportunities to identify causative DNA variants in rare Mendelian disorders. Finding the responsible mutation via traditional methods in families with hearing loss is difficult due to a high degree of genetic heterogeneity. In this study we combined autozygosity mapping and whole exome sequencing in a family with 3 affected children having nonsyndr...
متن کاملDiagnostic clinical genome and exome sequencing.
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
متن کاملDiagnostic Clinical Genome and Exome Sequencing
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
متن کاملWhole 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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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2013
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.7