Výsledky vyhľadávania - "PLoS genetics"

Orienting the causal relationship between imprecisely measured traits using GWAS summary data Autor Hemani, Gibran, Tilling, Kate, Davey Smith, George

“…Inference about the causal structure that induces correlations between two traits can be achieved by combining genetic associations with a mediation-based…”
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A more accurate method for colocalisation analysis allowing for multiple causal variants Autor Wallace, Chris

“…In genome-wide association studies (GWAS) it is now common to search for, and find, multiple causal variants located in close proximity. It has also become…”
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Combining the strengths of inverse-variance weighting and Egger regression in Mendelian randomization using a mixture of regressions model Autor Lin, Zhaotong, Deng, Yangqing, Pan, Wei

“…With the increasing availability of large-scale GWAS summary data on various traits, Mendelian randomization (MR) has become commonly used to infer causality…”
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Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval Autor King, Emily A., Davis, J. Wade, Degner, Jacob F.

“…Despite strong vetting for disease activity, only 10% of candidate new molecular entities in early stage clinical trials are eventually approved. Analyzing…”
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Fine-mapping from summary data with the “Sum of Single Effects” model Autor Zou, Yuxin, Carbonetto, Peter, Wang, Gao, Stephens, Matthew

“…In recent work, Wang et al introduced the “Sum of Single Effects” ( SuSiE ) model, and showed that it provides a simple and efficient approach to fine-mapping…”
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Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria Autor Day, Felix, Karaderi, Tugce, Jones, Michelle R., Meun, Cindy, He, Chunyan, Drong, Alex, Kraft, Peter, Lin, Nan, Huang, Hongyan, Broer, Linda, Magi, Reedik, Saxena, Richa, Laisk, Triin, Urbanek, Margrit, Hayes, M. Geoffrey, Thorleifsson, Gudmar, Fernandez-Tajes, Juan, Mahajan, Anubha, Mullin, Benjamin H., Stuckey, Bronwyn G. A., Spector, Timothy D., Wilson, Scott G., Goodarzi, Mark O., Davis, Lea, Obermayer-Pietsch, Barbara, Uitterlinden, André G., Anttila, Verneri, Neale, Benjamin M., Jarvelin, Marjo-Riitta, Fauser, Bart, Kowalska, Irina, Visser, Jenny A., Andersen, Marianne, Ong, Ken, Stener-Victorin, Elisabet, Ehrmann, David, Legro, Richard S., Salumets, Andres, McCarthy, Mark I., Morin-Papunen, Laure, Thorsteinsdottir, Unnur, Stefansson, Kari, Styrkarsdottir, Unnur, Perry, John R. B., Dunaif, Andrea, Laven, Joop, Franks, Steve, Lindgren, Cecilia M., Welt, Corrine K.

“…Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women…”
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Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses Autor Wallace, Chris

“…Horizontal integration of summary statistics from different GWAS traits can be used to evaluate evidence for their shared genetic causality. One popular method…”
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RNA-directed DNA Methylation Autor Erdmann, Robert M., Picard, Colette L.

“…RNA-directed DNA methylation (RdDM) is a biological process in which non-coding RNA molecules direct the addition of DNA methylation to specific DNA sequences…”
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The alternative reality of plant mitochondrial DNA: One ring does not rule them all Autor Kozik, Alexander, Rowan, Beth A., Lavelle, Dean, Berke, Lidija, Schranz, M. Eric, Michelmore, Richard W., Christensen, Alan C.

“…Plant mitochondrial genomes are usually assembled and displayed as circular maps based on the widely-held view across the broad community of life scientists…”
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Genetic compensation: A phenomenon in search of mechanisms Autor El-Brolosy, Mohamed A., Stainier, Didier Y. R.

“…Several recent studies in a number of model systems including zebrafish, Arabidopsis, and mouse have revealed phenotypic differences between knockouts (i.e.,…”
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Iterative Usage of Fixed and Random Effect Models for Powerful and Efficient Genome-Wide Association Studies Autor Liu, Xiaolei, Huang, Meng, Fan, Bin, Buckler, Edward S., Zhang, Zhiwu

“…False positives in a Genome-Wide Association Study (GWAS) can be effectively controlled by a fixed effect and random effect Mixed Linear Model (MLM) that…”
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Cancer epigenetics: Moving forward Autor Nebbioso, Angela, Tambaro, Francesco Paolo, Dell’Aversana, Carmela, Altucci, Lucia

“…Defects in chromatin modifiers and remodelers have been described both for hematological and solid malignancies, corroborating and strengthening the role of…”
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Viral quasispecies Autor Domingo, Esteban, Perales, Celia

“…Viral quasispecies refers to a population structure that consists of extremely large numbers of variant genomes, termed mutant spectra, mutant swarms or mutant…”
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MicroRNAs are minor constituents of extracellular vesicles that are rarely delivered to target cells Autor Albanese, Manuel, Chen, Yen-Fu Adam, Hüls, Corinna, Gärtner, Kathrin, Tagawa, Takanobu, Mejias-Perez, Ernesto, Keppler, Oliver T., Göbel, Christine, Zeidler, Reinhard, Shein, Mikhail, Schütz, Anne K., Hammerschmidt, Wolfgang

“…Mammalian cells release different types of vesicles, collectively termed extracellular vesicles (EVs). EVs contain cellular microRNAs (miRNAs) with an apparent…”
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A genomic overview of the population structure of Salmonella Autor Alikhan, Nabil-Fareed, Zhou, Zhemin, Sergeant, Martin J., Achtman, Mark

“…For many decades, Salmonella enterica has been subdivided by serological properties into serovars or further subdivided for epidemiological tracing by a…”
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Distinct evolutionary dynamics of horizontal gene transfer in drug resistant and virulent clones of Klebsiella pneumoniae Autor Wyres, Kelly L., Wick, Ryan R., Judd, Louise M., Froumine, Roni, Tokolyi, Alex, Gorrie, Claire L., Lam, Margaret M. C., Duchêne, Sebastián, Jenney, Adam, Holt, Kathryn E.

“…Klebsiella pneumoniae has emerged as an important cause of two distinct public health threats: multi-drug resistant (MDR) healthcare-associated infections and…”
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Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics Autor Giambartolomei, Claudia, Vukcevic, Damjan, Schadt, Eric E., Franke, Lude, Hingorani, Aroon D., Wallace, Chris, Plagnol, Vincent

“…Genetic association studies, in particular the genome-wide association study (GWAS) design, have provided a wealth of novel insights into the aetiology of a…”
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Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations Autor Kowalski, Madeline H., Qian, Huijun, Hou, Ziyi, Rosen, Jonathan D., Tapia, Amanda L., Shan, Yue, Jain, Deepti, Argos, Maria, Arnett, Donna K., Avery, Christy, Barnes, Kathleen C., Becker, Lewis C., Bien, Stephanie A., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Buyske, Steve, Cai, Jianwen, Cho, Michael H., Choi, Seung Hoan, Choquet, Hélène, Cupples, L. Adrienne, Cushman, Mary, Daya, Michelle, de Vries, Paul S., Ellinor, Patrick T., Faraday, Nauder, Fornage, Myriam, Gabriel, Stacey, Ganesh, Santhi K., Graff, Misa, Gupta, Namrata, He, Jiang, Heckbert, Susan R., Hidalgo, Bertha, Hodonsky, Chani J., Irvin, Marguerite R., Johnson, Andrew D., Jorgenson, Eric, Kaplan, Robert, Kardia, Sharon L. R., Kelly, Tanika N., Kooperberg, Charles, Lasky-Su, Jessica A., Loos, Ruth J. F., Lubitz, Steven A., Mathias, Rasika A., McHugh, Caitlin P., Montgomery, Courtney, Moon, Jee-Young, Morrison, Alanna C., Palmer, Nicholette D., Pankratz, Nathan, Papanicolaou, George J., Peralta, Juan M., Peyser, Patricia A., Rich, Stephen S., Rotter, Jerome I., Silverman, Edwin K., Smith, Jennifer A., Smith, Nicholas L., Taylor, Kent D., Thornton, Timothy A., Tiwari, Hemant K., Tracy, Russell P., Wang, Tao, Weiss, Scott T., Weng, Lu-Chen, Wiggins, Kerri L., Wilson, James G., Yanek, Lisa R., Zöllner, Sebastian, North, Kari E., Auer, Paul L., Raffield, Laura M., Reiner, Alexander P., Li, Yun

“…Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, and genetic studies of populations of…”
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Fragment Length of Circulating Tumor DNA Autor Underhill, Hunter R., Kitzman, Jacob O., Hellwig, Sabine, Welker, Noah C., Daza, Riza, Baker, Daniel N., Gligorich, Keith M., Rostomily, Robert C., Bronner, Mary P., Shendure, Jay

“…Malignant tumors shed DNA into the circulation. The transient half-life of circulating tumor DNA (ctDNA) may afford the opportunity to diagnose, monitor…”
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De novo gene birth Autor Van Oss, Stephen Branden, Carvunis, Anne-Ruxandra

“…A 2009 report identified the first three de novo human genes, one of which is a therapeutic target in chronic lymphocytic leukemia [45]. Since this time, a…”
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