The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation von Lambert, Samuel A., Gil, Laurent, Jupp, Simon, Ritchie, Scott C., Xu, Yu, Buniello, Annalisa, McMahon, Aoife, Abraham, Gad, Chapman, Michael, Parkinson, Helen, Danesh, John, MacArthur, Jacqueline A. L., Inouye, Michael

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Workshop proceedings: GWAS summary statistics standards and sharing von MacArthur, Jacqueline A.L., Buniello, Annalisa, Harris, Laura W., Hayhurst, James, McMahon, Aoife, Sollis, Elliot, Cerezo, Maria, Hall, Peggy, Lewis, Elizabeth, Whetzel, Patricia L., Bahcall, Orli G., Barroso, Inês, Carroll, Robert J., Inouye, Michael, Manolio, Teri A., Rich, Stephen S., Hindorff, Lucia A., Wiley, Ken, Parkinson, Helen

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Sequencing-based genome-wide association studies reporting standards von McMahon, Aoife, Lewis, Elizabeth, Buniello, Annalisa, Cerezo, Maria, Hall, Peggy, Sollis, Elliot, Parkinson, Helen, Hindorff, Lucia A., Harris, Laura W., MacArthur, Jacqueline A.L.

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The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age von MacArthur, Jacqueline A L, Spector, Timothy D, Lindsay, Sarah J, Mangino, Massimo, Gill, Raj, Small, Kerrin S, Hurles, Matthew E

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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 von Buniello, Annalisa, MacArthur, Jacqueline A L, Cerezo, Maria, Harris, Laura W, Hayhurst, James, Malangone, Cinzia, McMahon, Aoife, Morales, Joannella, Mountjoy, Edward, Sollis, Elliot, Suveges, Daniel, Vrousgou, Olga, Whetzel, Patricia L, Amode, Ridwan, Guillen, Jose A, Riat, Harpreet S, Trevanion, Stephen J, Hall, Peggy, Junkins, Heather, Flicek, Paul, Burdett, Tony, Hindorff, Lucia A, Cunningham, Fiona, Parkinson, Helen

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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog von Morales, Joannella, Welter, Danielle, Bowler, Emily H, Cerezo, Maria, Harris, Laura W, McMahon, Aoife C, Hall, Peggy, Junkins, Heather A, Milano, Annalisa, Hastings, Emma, Malangone, Cinzia, Buniello, Annalisa, Burdett, Tony, Flicek, Paul, Parkinson, Helen, Cunningham, Fiona, Hindorff, Lucia A, MacArthur, Jacqueline A L

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Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics von Ghoussaini, Maya, Mountjoy, Edward, Carmona, Miguel, Peat, Gareth, Schmidt, Ellen M, Hercules, Andrew, Fumis, Luca, Miranda, Alfredo, Carvalho-Silva, Denise, Buniello, Annalisa, Burdett, Tony, Hayhurst, James, Baker, Jarrod, Ferrer, Javier, Gonzalez-Uriarte, Asier, Jupp, Simon, Karim, Mohd Anisul, Koscielny, Gautier, Machlitt-Northen, Sandra, Malangone, Cinzia, Pendlington, Zoe May, Roncaglia, Paola, Suveges, Daniel, Wright, Daniel, Vrousgou, Olga, Papa, Eliseo, Parkinson, Helen, MacArthur, Jacqueline A L, Todd, John A, Barrett, Jeffrey C, Schwartzentruber, Jeremy, Hulcoop, David G, Ochoa, David, McDonagh, Ellen M, Dunham, Ian

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Charting a Course for Smartphones and Wearables to Transform Population Health Research von Dixon, William G, van der Veer, Sabine N, Ali, Syed Mustafa, Laidlaw, Lynn, Dobson, Richard J B, Sudlow, Cathie, Chico, Tim, MacArthur, Jacqueline A L, Doherty, Aiden

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Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project von Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, Berit, MacArthur, Jacqueline A. L., Maglott, Donna R., Mons, Barend, Rehm, Heidi L., Schofield, Paul N., Searle, Beverly A., Smedley, Damian, Smith, Cynthia L., Bernstein, Inge Thomsen, Zankl, Andreas, Zhao, Eric Y.

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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants von MacArthur, Jacqueline A. L., Morales, Joannella, Tully, Ray E., Astashyn, Alex, Gil, Laurent, Bruford, Elspeth A., Larsson, Pontus, Flicek, Paul, Dalgleish, Raymond, Maglott, Donna R., Cunningham, Fiona

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Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene von Ottolini, Barbara, Hornsby, Michael J, Abujaber, Razan, MacArthur, Jacqueline A L, Badge, Richard M, Schwarzacher, Trude, Albertson, Donna G, Bevins, Charles L, Solnick, Jay V, Hollox, Edward J

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Improving reporting standards for polygenic scores in risk prediction studies von Wand, Hannah, Lambert, Samuel A., Tamburro, Cecelia, Iacocca, Michael A., O’Sullivan, Jack W., Sillari, Catherine, Kullo, Iftikhar J., Rowley, Robb, Dron, Jacqueline S., Brockman, Deanna, Venner, Eric, McCarthy, Mark I., Antoniou, Antonis C., Easton, Douglas F., Hegele, Robert A., Khera, Amit V., Chatterjee, Nilanjan, Kooperberg, Charles, Edwards, Karen, Vlessis, Katherine, Kinnear, Kim, Danesh, John N., Parkinson, Helen, Ramos, Erin M., Roberts, Megan C., Ormond, Kelly E., Khoury, Muin J., Janssens, A. Cecile J. W., Goddard, Katrina A. B., Kraft, Peter, MacArthur, Jaqueline A. L., Inouye, Michael, Wojcik, Genevieve L.

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