Clinical use of current polygenic risk scores may exacerbate health disparities
Martin, Alicia R., Kanai, Masahiro, Kamatani, Yoichiro, Okada, Yukinori, Neale, Benjamin M., Daly, Mark J.
Published in Nature genetics (01.04.2019)
Published in Nature genetics (01.04.2019)
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Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, Patrick F., Daly, Mark J., O'Donovan, Michael
Published in Nature reviews. Genetics (01.08.2012)
Published in Nature reviews. Genetics (01.08.2012)
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Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, Alicia R., Gignoux, Christopher R., Walters, Raymond K., Wojcik, Genevieve L., Neale, Benjamin M., Gravel, Simon, Daly, Mark J., Bustamante, Carlos D., Kenny, Eimear E.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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The ExAC browser: displaying reference data information from over 60 000 exomes
Karczewski, Konrad J, Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M, Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E, Cummings, Beryl B, Birnbaum, Daniel, Daly, Mark J, MacArthur, Daniel G
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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Genetic Mapping in Human Disease
Altshuler, David, Daly, Mark J, Lander, Eric S
Published in Science (American Association for the Advancement of Science) (07.11.2008)
Published in Science (American Association for the Advancement of Science) (07.11.2008)
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Predicting Polygenic Risk of Psychiatric Disorders
Martin, Alicia R., Daly, Mark J., Robinson, Elise B., Hyman, Steven E., Neale, Benjamin M.
Published in Biological psychiatry (1969) (15.07.2019)
Published in Biological psychiatry (1969) (15.07.2019)
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Genetics of 35 blood and urine biomarkers in the UK Biobank
Sinnott-Armstrong, Nasa, Tanigawa, Yosuke, Amar, David, Mars, Nina, Benner, Christian, Aguirre, Matthew, Venkataraman, Guhan Ram, Wainberg, Michael, Ollila, Hanna M., Kiiskinen, Tuomo, Havulinna, Aki S., Pirruccello, James P., Qian, Junyang, Shcherbina, Anna, Rodriguez, Fatima, Assimes, Themistocles L., Agarwala, Vineeta, Tibshirani, Robert, Hastie, Trevor, Ripatti, Samuli, Pritchard, Jonathan K., Daly, Mark J., Rivas, Manuel A.
Published in Nature genetics (01.02.2021)
Published in Nature genetics (01.02.2021)
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Searching for missing heritability: Designing rare variant association studies
Zuk, Or, Schaffner, Stephen F, Samocha, Kaitlin, Do, Ron, Hechter, Eliana, Kathiresan, Sekar, Daly, Mark J, Neale, Benjamin M, Sunyaev, Shamil R, Lander, Eric S
Published in Proceedings of the National Academy of Sciences - PNAS (28.01.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (28.01.2014)
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Schizophrenia risk from complex variation of complement component 4
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.
Published in Nature (London) (11.02.2016)
Published in Nature (London) (11.02.2016)
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Partitioning heritability by functional annotation using genome-wide association summary statistics
Finucane, Hilary K, Bulik-Sullivan, Brendan, Gusev, Alexander, Trynka, Gosia, Reshef, Yakir, Loh, Po-Ru, Anttila, Verneri, Xu, Han, Zang, Chongzhi, Farh, Kyle, Ripke, Stephan, Day, Felix R, Purcell, Shaun, Stahl, Eli, Lindstrom, Sara, Perry, John R B, Okada, Yukinori, Raychaudhuri, Soumya, Daly, Mark J, Patterson, Nick, Neale, Benjamin M, Price, Alkes L
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Atkinson, Elizabeth G., Maihofer, Adam X., Kanai, Masahiro, Martin, Alicia R., Karczewski, Konrad J., Santoro, Marcos L., Ulirsch, Jacob C., Kamatani, Yoichiro, Okada, Yukinori, Finucane, Hilary K., Koenen, Karestan C., Nievergelt, Caroline M., Daly, Mark J., Neale, Benjamin M.
Published in Nature genetics (01.02.2021)
Published in Nature genetics (01.02.2021)
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Abundant contribution of short tandem repeats to gene expression variation in humans
Gymrek, Melissa, Willems, Thomas, Guilmatre, Audrey, Zeng, Haoyang, Markus, Barak, Georgiev, Stoyan, Daly, Mark J, Price, Alkes L, Pritchard, Jonathan K, Sharp, Andrew J, Erlich, Yaniv
Published in Nature genetics (01.01.2016)
Published in Nature genetics (01.01.2016)
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Genetic and epigenetic fine mapping of causal autoimmune disease variants
Farh, Kyle Kai-How, Marson, Alexander, Zhu, Jiang, Kleinewietfeld, Markus, Housley, William J., Beik, Samantha, Shoresh, Noam, Whitton, Holly, Ryan, Russell J. H., Shishkin, Alexander A., Hatan, Meital, Carrasco-Alfonso, Marlene J., Mayer, Dita, Luckey, C. John, Patsopoulos, Nikolaos A., De Jager, Philip L., Kuchroo, Vijay K., Epstein, Charles B., Daly, Mark J., Hafler, David A., Bernstein, Bradley E.
Published in Nature (London) (19.02.2015)
Published in Nature (London) (19.02.2015)
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Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
Pe'er, Itsik, Yelensky, Roman, Altshuler, David, Daly, Mark J.
Published in Genetic epidemiology (01.05.2008)
Published in Genetic epidemiology (01.05.2008)
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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RICOPILI: Rapid Imputation for COnsortias PIpeLIne
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
Published in Bioinformatics (01.02.2020)
Published in Bioinformatics (01.02.2020)
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A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment
Schork, Andrew J., Won, Hyejung, Appadurai, Vivek, Nudel, Ron, Gandal, Mike, Delaneau, Olivier, Revsbech Christiansen, Malene, Hougaard, David M., Bækved-Hansen, Marie, Bybjerg-Grauholm, Jonas, Giørtz Pedersen, Marianne, Agerbo, Esben, Bøcker Pedersen, Carsten, Neale, Benjamin M., Daly, Mark J., Wray, Naomi R., Nordentoft, Merete, Mors, Ole, Børglum, Anders D., Bo Mortensen, Preben, Buil, Alfonso, Thompson, Wesley K., Geschwind, Daniel H., Werge, Thomas
Published in Nature neuroscience (01.03.2019)
Published in Nature neuroscience (01.03.2019)
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, Mark A, Banks, Eric, Poplin, Ryan, Garimella, Kiran V, Maguire, Jared R, Hartl, Christopher, Philippakis, Anthony A, del Angel, Guillermo, Rivas, Manuel A, Hanna, Matt, McKenna, Aaron, Fennell, Tim J, Kernytsky, Andrew M, Sivachenko, Andrey Y, Cibulskis, Kristian, Gabriel, Stacey B, Altshuler, David, Daly, Mark J
Published in Nature genetics (01.05.2011)
Published in Nature genetics (01.05.2011)
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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies
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
Published in eLife (21.03.2019)
Published in eLife (21.03.2019)
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