bioRxiv, 2021 Summary Genome-wide association studies (GWAS) summary statistics have popularised and accelerated genetic research. However, a lack of standardisation of the file formats used has proven problematic when running secondary analysis tools or performing ...
Alan E. Murphy, Nathan G. Skene
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Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]
, 2020 Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R +25 more
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Orienting the causal relationship between imprecisely measured traits using GWAS summary data
PLoS Genetics, 2017 Inference about the causal structure that induces correlations between two traits can be achieved by combining genetic associations with a mediation-based approach, as is done in the causal inference test (CIT). However, we show that measurement error in
G. Hemani, K. Tilling, G. Davey Smith
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The impact of conditional cash transfers on health outcomes and use of health services in low and middle income countries. [PDF]
, 2009 BACKGROUND: Conditional cash transfers (CCT) provide monetary transfers to households on the condition that they comply with some pre-defined requirements.
Haines, Andy +2 more
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Identification of Novel Genetic Variants Associated with Insomnia and Migraine Comorbidity
Nature and Science of Sleep, 2022 Yu-Chin An,1 Chia-Lin Tsai,2 Chih-Sung Liang,3 Yu-Kai Lin,2 Guan-Yu Lin,2 Chia-Kuang Tsai,2 Yi Liu,2 Sy-Jou Chen,1 Shih-Hung Tsai,1 Kuo-Sheng Hung,4 Fu-Chi Yang2 1Department of Emergency Medicine, Tri-Service General Hospital, National Defense Medical ...
An YC +10 more
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Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]
, 2020 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R +6 more
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qqman: an R package for visualizing GWAS results using Q-Q and manhattan plots
bioRxiv, 2014 Summary Genome-wide association studies (GWAS) have identified thousands of human trait-associated single nucleotide polymorphisms. Here, I describe a freely available R package for visualizing GWAS results using Q-Q and manhattan plots.
Stephen D. Turner
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The variant call format provides efficient and robust storage of GWAS summary statistics
Genome Biology, 2020 GWAS summary statistics are fundamental for a variety of research applications yet no common storage format has been widely adopted. Existing tabular formats ambiguously or incompletely store information about genetic variants and associations, lack ...
M. Lyon +5 more
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Functional studies of lung cancer GWAS beyond association.
Human Molecular Genetics, 2022 Fourteen years after the first genome-wide association study (GWAS) of lung cancer was published, approximately forty-five genomic loci have now been significantly associated with lung cancer risk.
Erping Long +4 more
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Y染色体嵌合缺失与心脑血管疾病 Mosaic Loss of Y Chromosome and Cardio-and Cerebrovascular Diseases
Zhongguo cuzhong zazhi, 2023 研究提示，外周血白细胞发生Y染色体嵌合缺失（mosaic loss of chromosome Y，mLOY）增加全因死亡和心脑血管等年龄相关疾病的风险。mLOY是男性特有的遗传变异因素，高龄、吸烟、空气污染等可能是mLOY的危险因素。近年来的全基因组关联分析（genome wide association studies，GWAS）研究发现了不少与mLOY相关的基因位点。基础研究和基于人类基因数据库的分析提示mLOY对心脑血管疾病的发生和复发、预后有不良影响，其可能机制有“免疫监控”假说和“共同土壤 ...
李嫣然, 程丝, 赵曼曼, 李昊, 王拥军
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