Search Results - "Daly, MJ"

Genome-wide association studies for common diseases and complex traits by Hirschhorn, Joel N, Daly, Mark J

“…Genetic factors strongly affect susceptibility to common diseases and also influence disease-related quantitative traits. Identifying the relevant genes has…”
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Efficiency and power in genetic association studies by Daly, Mark J, Altshuler, David, de Bakker, Paul I W, Yelensky, Roman, Pe'er, Itsik, Gabriel, Stacey B

“…We investigated selection and analysis of tag SNPs for genome-wide association studies by specifically examining the relationship between investment in…”
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Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping by Sawcer, Stephen J, Maranian, Mel, Singlehurst, Sara, Yeo, TaiWai, Compston, Alastair, Daly, Mark J, De Jager, Philip L, Gabriel, Stacey, Hafler, David A, Ivinson, Adrian J, Lander, Eric S, Rioux, John D, Walsh, Emily, Gregory, Simon G, Schmidt, Silke, Pericak-Vance, Margaret A, Barcellos, Lisa, Hauser, Stephen L, Oksenberg, Jorge R, Kenealy, Shannon J, Haines, Jonathan L

“…To explore the potential value of recently developed high-density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear…”
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Genetic architectures of psychiatric disorders: the emerging picture and its implications by Sullivan, Patrick F., Daly, Mark J., O'Donovan, Michael

“…Key Points Psychiatric disorders cause enormous morbidity, mortality and personal and societal costs. Despite considerable investigation, little is known for…”
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Schizophrenia risk from complex variation of complement component 4 by Sekar, Aswin, Bialas, Allison R., de Rivera, Heather, Davis, Avery, Hammond, Timothy R., Kamitaki, Nolan, Tooley, Katherine, Presumey, Jessy, Baum, Matthew, Van Doren, Vanessa, Genovese, Giulio, Rose, Samuel A., Handsaker, Robert E., Daly, Mark J., Carroll, Michael C., Stevens, Beth, McCarroll, Steven A.

“…Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms. Schizophrenia’s strongest genetic association at a population level involves…”
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne by Lam, Max, Awasthi, Swapnil, Watson, Hunna J, Goldstein, Jackie, Panagiotaropoulou, Georgia, Trubetskoy, Vassily, Karlsson, Robert, Frei, Oleksander, Fan, Chun-Chieh, De Witte, Ward, Mota, Nina R, Mullins, Niamh, Brügger, Kim, Lee, S Hong, Wray, Naomi R, Skarabis, Nora, Huang, Hailiang, Neale, Benjamin, Daly, Mark J, Mattheisen, Manuel, Walters, Raymond, Ripke, Stephan

“…Abstract Summary Genome-wide association study (GWAS) analyses, at sufficient sample sizes and power, have successfully revealed biological insights for…”
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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies by Sohail, Mashaal, Maier, Robert M, Ganna, Andrea, Bloemendal, Alex, Martin, Alicia R, Turchin, Michael C, Chiang, Charleston Wk, Hirschhorn, Joel, Daly, Mark J, Patterson, Nick, Neale, Benjamin, Mathieson, Iain, Reich, David, Sunyaev, Shamil R

“…Genetic predictions of height differ among human populations and these differences have been interpreted as evidence of polygenic adaptation. These differences…”
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Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis by Smoller, JW, Ripke, S, Lee, PH, Neale, B, Nurnberger, JI, Santangelo, S, Sullivan, PF, Perlis, RH, Purcell, SM, Fanous, A, Landén, Mikael

“…Summary Background Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present…”
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The Structure of D. radiodurans by Battista, John R., Cox, Michael M., Daly, Michael J., Narumi, Issay, Radman, Miroslav, Sommer, Suzanne, Minsky, Abraham, Sharma, Ajay K., Englander, Joseph

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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses by Purcell, Shaun, Neale, Benjamin, Todd-Brown, Kathe, Thomas, Lori, Ferreira, Manuel A.R., Bender, David, Maller, Julian, Sklar, Pamela, de Bakker, Paul I.W., Daly, Mark J., Sham, Pak C.

“…Whole-genome association studies (WGAS) bring new computational, as well as analytic, challenges to researchers. Many existing genetic-analysis tools are not…”
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Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls by Pettersson, E, Lichtenstein, P, Larsson, H, Song, J, Agrawal, A, Børglum, A D, Bulik, C M, Daly, M J, Davis, L K, Demontis, D, Edenberg, H J, Grove, J, Gelernter, J, Neale, B M, Pardiñas, A F, Stahl, E, Walters, J T R, Walters, R, Sullivan, P F, Posthuma, D, Polderman, T J C

“…Most studies underline the contribution of heritable factors for psychiatric disorders. However, heritability estimates depend on the population under study,…”
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Haploview: analysis and visualization of LD and haplotype maps by Barrett, J. C., Fry, B., Maller, J., Daly, M. J.

“…Research over the last few years has revealed significant haplotype structure in the human genome. The characterization of these patterns, particularly in the…”
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Phenome-wide association studies across large population cohorts support drug target validation by Diogo, Dorothée, Tian, Chao, Franklin, Christopher S., Alanne-Kinnunen, Mervi, March, Michael, Spencer, Chris C. A., Vangjeli, Ciara, Weale, Michael E., Mattsson, Hannele, Kilpeläinen, Elina, Sleiman, Patrick M. A., Reilly, Dermot F., McElwee, Joshua, Maranville, Joseph C., Chatterjee, Arnaub K., Bhandari, Aman, Nguyen, Khanh-Dung H., Estrada, Karol, Reeve, Mary-Pat, Hutz, Janna, Bing, Nan, John, Sally, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Hakonarson, Hakon, Daly, Mark J., Palotie, Aarno, Hinds, David A., Donnelly, Peter, Fox, Caroline S., Day-Williams, Aaron G., Plenge, Robert M., Runz, Heiko

“…Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying…”
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High Burden of Ileus and Pneumonia in Clozapine-Treated Individuals With Schizophrenia: A Finnish 25-Year Follow-Up Register Study by Partanen, Juulia J, Häppölä, Paavo, Kämpe, Anders, Ahola-Olli, Ari, Hellsten, Anni, Rask, Susanna M, Haaki, Willehard, Hietala, Jarmo, Kampman, Olli, Tiihonen, Jari, Tanskanen, Antti J, Daly, Mark J, Ripatti, Samuli, Palotie, Aarno, Taipale, Heidi, Lähteenvuo, Markku, Koskela, Jukka T

“…The authors used longitudinal biobank data with up to 25 years of follow-up on over 2,600 clozapine users to derive reliable estimates of the real-world burden…”
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Calibrating a coalescent simulation of human genome sequence variation by Schaffner, Stephen F, Foo, Catherine, Gabriel, Stacey, Reich, David, Daly, Mark J, Altshuler, David

“…Population genetic models play an important role in human genetic research, connecting empirical observations about sequence variation with hypotheses about…”
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Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles by Goldstein, Jacqueline I., Fredrik Jarskog, L., Hilliard, Chris, Alfirevic, Ana, Duncan, Laramie, Fourches, Denis, Huang, Hailiang, Lek, Monkol, Neale, Benjamin M., Ripke, Stephan, Shianna, Kevin, Szatkiewicz, Jin P., Tropsha, Alexander, van den Oord, Edwin JCG, Cascorbi, Ingolf, Dettling, Michael, Gazit, Ephraim, Goff, Donald C., Holden, Arthur L., Kelly, Deanna L., Malhotra, Anil K., Nielsen, Jimmi, Pirmohamed, Munir, Rujescu, Dan, Werge, Thomas, Levy, Deborah L., Josiassen, Richard C., Kennedy, James L., Lieberman, Jeffrey A., Daly, Mark J., Sullivan, Patrick F.

“…Clozapine is a particularly effective antipsychotic medication but its use is curtailed by the risk of clozapine-induced agranulocytosis/granulocytopenia…”
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Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5 by Giri, Anil K., Aavikko, Mervi, Wartiovaara, Linnea, Lemmetyinen, Toni, Karjalainen, Juha, Mehtonen, Juha, Palin, Kimmo, Välimäki, Niko, Tamlander, Max, Saikkonen, Riikka, Karhu, Auli, Morgunova, Ekaterina, Sun, Benjamin, Runz, Heiko, Palta, Priit, Luo, Shuang, Joensuu, Heikki, Mäkelä, Tomi P., Kostiainen, Iiro, Schalin-Jäntti, Camilla, FinnGen, Palotie, Aarno, Aaltonen, Lauri A., Ollila, Saara, Daly, Mark J.

“…Small intestinal neuroendocrine tumor (SI-NET) is a rare disease, but its incidence has increased over the past 4 decades. Understanding the genetic risk…”
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Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland by Martin, Alicia R., Karczewski, Konrad J., Kerminen, Sini, Kurki, Mitja I., Sarin, Antti-Pekka, Artomov, Mykyta, Eriksson, Johan G., Esko, Tõnu, Genovese, Giulio, Havulinna, Aki S., Kaprio, Jaakko, Konradi, Alexandra, Korányi, László, Kostareva, Anna, Männikkö, Minna, Metspalu, Andres, Perola, Markus, Prasad, Rashmi B., Raitakari, Olli, Rotar, Oxana, Salomaa, Veikko, Groop, Leif, Palotie, Aarno, Neale, Benjamin M., Ripatti, Samuli, Pirinen, Matti, Daly, Mark J.

“…Finland provides unique opportunities to investigate population and medical genomics because of its adoption of unified national electronic health records,…”
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Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts by Ek, Weronica E, Reznichenko, Anna, Ripke, Stephan, Niesler, Beate, Zucchelli, Marco, Rivera, Natalia V, Schmidt, Peter T, Pedersen, Nancy L, Magnusson, Patrik, Talley, Nicholas J, Holliday, Elizabeth G, Houghton, Lesley, Gazouli, Maria, Karamanolis, George, Rappold, Gudrun, Burwinkel, Barbara, Surowy, Harald, Rafter, Joseph, Assadi, Ghazaleh, Li, Ling, Papadaki, Evangelia, Gambaccini, Dario, Marchi, Santino, Colucci, Rocchina, Blandizzi, Corrado, Barbaro, Raffaella, Karling, Pontus, Walter, Susanna, Ohlsson, Bodil, Tornblom, Hans, Bresso, Francesca, Andreasson, Anna, Dlugosz, Aldona, Simren, Magnus, Agreus, Lars, Lindberg, Greger, Boeckxstaens, Guy, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Daly, Mark J, Camilleri, Michael, Wouters, Mira M, D'Amato, Mauro

“…IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by…”
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PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes by Altshuler, David, Groop, Leif C, Mootha, Vamsi K, Lindgren, Cecilia M, Eriksson, Karl-Fredrik, Subramanian, Aravind, Sihag, Smita, Lehar, Joseph, Puigserver, Pere, Carlsson, Emma, Ridderstråle, Martin, Laurila, Esa, Houstis, Nicholas, Daly, Mark J, Patterson, Nick, Mesirov, Jill P, Golub, Todd R, Tamayo, Pablo, Spiegelman, Bruce, Lander, Eric S, Hirschhorn, Joel N

“…DNA microarrays can be used to identify gene expression changes characteristic of human disease. This is challenging, however, when relevant differences are…”
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