Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
Whole-genome sequencing is a potentially powerful tool for the diagnosis of genetic diseases. Here, we used sequencing-by-ligation to sequence the genome of an 11-month-old breast-fed girl with xanthomas and very high plasma cholesterol levels (1023 mg/dl). Her parents had normal plasma cholesterol levels and reported no family history of hypercholesterolemia, suggesting either an autosomal rec...
متن کاملErratum: Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing
The fund agencies had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. "
متن کاملIdentification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing
Familial hypercholesterolaemia (FH) is a serious genetic metabolic disease. We identified a specific family in which the proband had typical homozygous phenotype of FH, but couldn't detect any mutations in usual pathogenic genes using traditional sequencing. This study is the first attempt to use whole exome sequencing (WES) to identify the pathogenic genes in Chinese FH. The routine examinatio...
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The next-generation sequencing technology coupled with the growing number of genome sequences opens the opportunity to redesign genotyping strategies for more effective genetic mapping and genome analysis. We have developed a high-throughput method for genotyping recombinant populations utilizing whole-genome resequencing data generated by the Illumina Genome Analyzer. A sliding window approach...
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Hanwoo, a Korean native cattle (Bos taurus coreana), has great economic value due to high meat quality. Also, the breed has genetic variations that are associated with production traits such as health, disease resistance, reproduction, growth as well as carcass quality. In this study, next generation sequencing technologies and the availability of an appropriate reference genome were applied to...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2010
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddq352