Optimal sequencing strategies for identifying disease-associated singletons. by Sara Rashkin, Goo Jun, Sai Chen, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Goncalo R Abecasis

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LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks. by Jeffery A Goldstein, Joshua S Weinstock, Lisa A Bastarache, Daniel B Larach, Lars G Fritsche, Ellen M Schmidt, Chad M Brummett, Sachin Kheterpal, Goncalo R Abecasis, Joshua C Denny, Matthew Zawistowski

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The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients by Matthew Zawistowski, Lars G. Fritsche, Anita Pandit, Brett Vanderwerff, Snehal Patil, Ellen M. Schmidt, Peter VandeHaar, Cristen J. Willer, Chad M. Brummett, Sachin Kheterpal, Xiang Zhou, Michael Boehnke, Gonçalo R. Abecasis, Sebastian Zöllner

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Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools. by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger

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Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools. by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger

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Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb. by Lars G Fritsche, Lauren J Beesley, Peter VandeHaar, Robert B Peng, Maxwell Salvatore, Matthew Zawistowski, Sarah A Gagliano Taliun, Sayantan Das, Jonathon LeFaive, Erin O Kaleba, Thomas T Klumpner, Stephanie E Moser, Victoria M Blanc, Chad M Brummett, Sachin Kheterpal, Gonçalo R Abecasis, Stephen B Gruber, Bhramar Mukherjee

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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects by Allison A. Regier, Yossi Farjoun, David E. Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan, Bo-Juen Chen, Manisha Kher, Eric Banks, Darren C. Ames, Adam C. English, Heng Li, Jinchuan Xing, Yeting Zhang, Tara Matise, Goncalo R. Abecasis, Will Salerno, Michael C. Zody, Benjamin M. Neale, Ira M. Hall

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Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT by Marta R. Moksnes, Sarah E. Graham, Kuan-Han Wu, Ailin Falkmo Hansen, Sarah A. Gagliano Taliun, Wei Zhou, Ketil Thorstensen, Lars G. Fritsche, Dipender Gill, Amy Mason, Francesco Cucca, David Schlessinger, Gonçalo R. Abecasis, Stephen Burgess, Bjørn Olav Åsvold, Jonas B. Nielsen, Kristian Hveem, Cristen J. Willer, Ben M. Brumpton

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Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data by Yu Jiang, Sai Chen, Xingyan Wang, Mengzhen Liu, William G. Iacono, John K. Hewitt, John E. Hokanson, Kenneth Krauter, Markku Laakso, Kevin W. Li, Sharon M. Lutz, Matthew McGue, Anita Pandit, Gregory J.M. Zajac, Michael Boehnke, Goncalo R. Abecasis, Scott I. Vrieze, Bibo Jiang, Xiaowei Zhan, Dajiang J. Liu

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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. by Angelo Scuteri, Serena Sanna, Wei-Min Chen, Manuela Uda, Giuseppe Albai, James Strait, Samer Najjar, Ramaiah Nagaraja, Marco Orrú, Gianluca Usala, Mariano Dei, Sandra Lai, Andrea Maschio, Fabio Busonero, Antonella Mulas, Georg B Ehret, Ashley A Fink, Alan B Weder, Richard S Cooper, Pilar Galan, Aravinda Chakravarti, David Schlessinger, Antonio Cao, Edward Lakatta, Gonçalo R Abecasis

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Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide by Philip E. Stuart, Lam C. Tsoi, Rajan P. Nair, Manju Ghosh, Madhulika Kabra, Pakeeza A. Shaiq, Ghazala K. Raja, Raheel Qamar, B.K. Thelma, Matthew T. Patrick, Anita Parihar, Sonam Singh, Sujay Khandpur, Uma Kumar, Michael Wittig, Frauke Degenhardt, Trilokraj Tejasvi, John J. Voorhees, Stephan Weidinger, Andre Franke, Goncalo R. Abecasis, Vinod K. Sharma, James T. Elder

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Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes. by Yu Jiang, Sai Chen, Daniel McGuire, Fang Chen, Mengzhen Liu, William G Iacono, John K Hewitt, John E Hokanson, Kenneth Krauter, Markku Laakso, Kevin W Li, Sharon M Lutz, Matthew McGue, Anita Pandit, Gregory J M Zajac, Michael Boehnke, Goncalo R Abecasis, Scott I Vrieze, Xiaowei Zhan, Bibo Jiang, Dajiang J Liu

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Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. by Serena Sanna, Bingshan Li, Antonella Mulas, Carlo Sidore, Hyun M Kang, Anne U Jackson, Maria Grazia Piras, Gianluca Usala, Giuseppe Maninchedda, Alessandro Sassu, Fabrizio Serra, Maria Antonietta Palmas, William H Wood, Inger Njølstad, Markku Laakso, Kristian Hveem, Jaakko Tuomilehto, Timo A Lakka, Rainer Rauramaa, Michael Boehnke, Francesco Cucca, Manuela Uda, David Schlessinger, Ramaiah Nagaraja, Gonçalo R Abecasis

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Pervasive sharing of genetic effects in autoimmune disease. by Chris Cotsapas, Benjamin F Voight, Elizabeth Rossin, Kasper Lage, Benjamin M Neale, Chris Wallace, Gonçalo R Abecasis, Jeffrey C Barrett, Timothy Behrens, Judy Cho, Philip L De Jager, James T Elder, Robert R Graham, Peter Gregersen, Lars Klareskog, Katherine A Siminovitch, David A van Heel, Cisca Wijmenga, Jane Worthington, John A Todd, David A Hafler, Stephen S Rich, Mark J Daly, FOCiS Network of Consortia

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MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk by Ida Surakka, Lars G. Fritsche, Wei Zhou, Joshua Backman, Jack A. Kosmicki, Haocheng Lu, Ben Brumpton, Jonas B. Nielsen, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, Sarah E. Graham, Y. Eugene Chen, Seunggeun Lee, Hyun Min Kang, Arnulf Langhammer, Siri Forsmo, Bjørn O. Åsvold, Unnur Styrkarsdottir, Hilma Holm, Daniel Gudbjartsson, Kari Stefansson, Aris Baras, Regeneron Genetics Center, Goncalo R. Abecasis, Kristian Hveem, Cristen J. Willer

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Clonal hematopoiesis in sickle cell disease by L. Alexander Liggett, Liam D. Cato, Joshua S. Weinstock, Yingze Zhang, S. Mehdi Nouraie, Mark T. Gladwin, Melanie E. Garrett, Allison Ashley-Koch, Marilyn J. Telen, Brian Custer, Shannon Kelly, Carla L. Dinardo, Ester C. Sabino, Paula Loureiro, Anna B. Carneiro-Proietti, Cláudia Maximo, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Alexander P. Reiner, Gonçalo R. Abecasis, David A. Williams, Pradeep Natarajan, Alexander G. Bick, Vijay G. Sankaran

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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults by Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey Staples, Shawn Mishra, Yu Bai, Alexandra Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, GHS-REGN DiscovEHR collaboration, Regeneron Genetics Center, Decibel-REGN collaboration, Olle Melander, Marcus B. Jones, Jonathan Marchini, Suganthi Balasubramanian, Brian Zambrowicz, Meghan C. Drummond, Aris Baras, Goncalo R. Abecasis, Manuel A. Ferreira, Eli A. Stahl, Giovanni Coppola

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Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. by Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner

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Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants by Lam C. Tsoi, Philip E. Stuart, Chao Tian, Johann E. Gudjonsson, Sayantan Das, Matthew Zawistowski, Eva Ellinghaus, Jonathan N. Barker, Vinod Chandran, Nick Dand, Kristina Callis Duffin, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Dafna D. Gladman, Per Hoffmann, Külli Kingo, Sulev Kõks, Gerald G. Krueger, Henry W. Lim, Andres Metspalu, Ulrich Mrowietz, Sören Mucha, Proton Rahman, Andre Reis, Trilokraj Tejasvi, Richard Trembath, John J. Voorhees, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, Nicholas Eriksson, Hyun M. Kang, David A. Hinds, Rajan P. Nair, Gonçalo R. Abecasis, James T Elder

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Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. by Stephanie A Bien, Paul L Auer, Tabitha A Harrison, Conghui Qu, Charles M Connolly, Peyton G Greenside, Sai Chen, Sonja I Berndt, Stéphane Bézieau, Hyun M Kang, Jeroen Huyghe, Hermann Brenner, Graham Casey, Andrew T Chan, John L Hopper, Barbara L Banbury, Jenny Chang-Claude, Stephen J Chanock, Robert W Haile, Michael Hoffmeister, Christian Fuchsberger, Mark A Jenkins, Suzanne M Leal, Mathieu Lemire, Polly A Newcomb, Steven Gallinger, John D Potter, Robert E Schoen, Martha L Slattery, Joshua D Smith, Loic Le Marchand, Emily White, Brent W Zanke, Goncalo R Abeçasis, Christopher S Carlson, Ulrike Peters, Deborah A Nickerson, Anshul Kundaje, Li Hsu, GECCO and CCFR

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