Whole Exome Sequencing in Monogenic Dyslipidemias
نویسندگان
چکیده
منابع مشابه
Exome sequencing in suspected monogenic dyslipidemias.
BACKGROUND Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. METHODS AND RESULTS We performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein cholesterol (after candidate ...
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...
متن کاملWhole Exome Sequencing
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متن کاملOR9-001 - Exome sequencing in monogenic Behçet-like disease
Results We identified 21 putative candidate variants that are both novel and consistent with dominant inheritance. Sanger sequencing validated all 21 variants. Three variants identified in TNFRSF9, MGEA5, and TNFAIP3 genes were confirmed to have arisen de novo in the affected mother based on the genotyping of the healthy maternal grandmother, the maternal unaffected brother, and the unaffected ...
متن کاملComparing whole genome sequencing and exome sequencing
Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
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ژورنال
عنوان ژورنال: Journal of Atherosclerosis and Thrombosis
سال: 2015
ISSN: 1340-3478,1880-3873
DOI: 10.5551/jat.ed016