A39 Human exome sequencing to evaluate the impact of rare coding variation on HIV-1 control
نویسندگان
چکیده
A37 HIV drug resistance monitoring in children receiving first line antiretroviral therapy at two pediatric hospitals in Ho Chi Minh City Anh Q. Luong, Ton Tran, Khanh Thu H. Hoang, Ngoc Thao T. Do, Thinh X. Vu, Khanh H. Truong, Quy T. Du, Kim Thoa P. Le, Viet C. Do, An T. Vu, Thanh Thuy T. Le, Kim Chi T. Nguyen, Binh K. Nguyen, Hien. T Bui, Xuan Lien T. Truong, Pasteur Institute, Ho Chi Minh City, Nhi Dong 1 hospital, Ho Chi Minh City, Nhi Dong 2 hospital, Ho Chi Minh City and HHS/CDC, Vietnam
منابع مشابه
Evaluating the Impact of Functional Genetic Variation on HIV-1 Control
Background Previous genetic association studies of human immunodeficiency virus-1 (HIV-1) progression have focused on common human genetic variation ascertained through genome-wide genotyping. Methods We sought to systematically assess the full spectrum of functional variation in protein coding gene regions on HIV-1 progression through exome sequencing of 1327 individuals. Genetic variants we...
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BACKGROUND Systemic sclerosis (SSc) is a rheumatologic disease with a multifactorial etiology. Genome-wide association studies imply a polygenic, complex mode of inheritance with contributions from variation at the human leukocyte antigen locus and non-coding variation at a locus on chromosome 6p21, among other modestly impactful loci. Here we describe an 8-year-old female proband presenting wi...
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High-throughput sequencing of DNA coding regions has become a common way of assaying genomic variation in the study of human diseases. Copy number variation (CNV) is an important type of genomic variation, but detecting and characterizing CNV from exome sequencing is challenging due to the high level of biases and artifacts. We propose CODEX, a normalization and CNV calling procedure for whole ...
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Sequencing of gene-coding regions (the exome) is increasingly used for studying human disease, for which copy-number variants (CNVs) are a critical genetic component. However, detecting copy number from exome sequencing is challenging because of the noncontiguous nature of the captured exons. This is compounded by the complex relationship between read depth and copy number; this results from bi...
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2017