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Article
Open AccessDiagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic appr...
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Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Most rare disease patients (75–50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding dis...
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Article
Open AccessCorrection: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
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Article
Open AccessImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an und...
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Article
Review of Commercially Available Epilepsy Genetic Panels
Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels available. We assessed the list of genes tested and consent...
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Article
Open AccessMoxifloxacin induced fatal hepatotoxicity in a 72-year-old man: a case report
Moxifloxacin is a newer-generation synthetic fluoroquinolone that is used for treatment of acute bacterial sinusitis, acute exacerbation of chronic bronchitis, community acquired pneumonia, intra-abdominal inf...
