Search results for "Panel-based NGS sequencing"

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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

2016

Background Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Objective The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. Methods We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism. We sequenced 11 samples of patients with severe HTG (TG>885 mg/dL–10 mmol/L): 4 positive controls in whom pathogenic mutations had pre…

AdultMale0301 basic medicineCandidate geneEndocrinology Diabetes and MetabolismDNA Mutational AnalysisNonsense mutationPanel-based NGS sequencing030204 cardiovascular system & hematologyBiologymedicine.disease_causeDNA sequencing03 medical and health sciencessymbols.namesakeExon0302 clinical medicineNutrition and DieteticInternal MedicinemedicineHumansGeneHypertriglyceridemiaSanger sequencingGeneticsMutationNutrition and DieteticsLMF1 geneNonsense mutationHigh-Throughput Nucleotide SequencingInfantMembrane ProteinsIon semiconductor sequencingMiddle AgedIon torrent PGM sequencingPhenotype030104 developmental biologyChild PreschoolsymbolsFemaleCardiology and Cardiovascular MedicineJournal of Clinical Lipidology
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A NEXT GENERATION SEQUENCING APPROACH FOR MOLECULAR DIAGNOSIS OF MONOGENIC DYSLIPIDEMIAS

Dyslipidemias Ion torrent PGM sequencing Panel-based NGS sequencing molecular diagnosis
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