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Genetics

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  • Frameshifts and wild-type protein sequences are always highly similar because the genetic code is optimal for frameshift tolerance
    Xiaolong Wang, Quanjiang Dong, Gang Chen, Jianye Zhang, Yongqiang Liu, Yujia Cai
    bioRxiv 067736; doi: https://doi.org/10.1101/067736 New Results
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  • Immune-mediated genetic pathways resulting in pulmonary function impairment increase lung cancer susceptibility
    Linda Kachuri, Mattias Johansson, Sara R. Rashkin, Rebecca E. Graff, Yohan Bossé, Venkata Manem, Neil E. Caporaso, Maria Teresa Landi, David C. Christiani, Paolo Vineis, Geoffrey Liu, Ghislaine Scelo, David Zaridze, Sanjay S. Shete, Demetrius Albanes, Melinda C. Aldrich, Adonina Tardón, Gad Rennert, Chu Chen, Gary E. Goodman, Jennifer A. Doherty, Heike Bickeböller, John K. Field, Michael P. Davies, M. Dawn Teare, Lambertus A. Kiemeney, Stig E. Bojesen, Aage Haugen, Shanbeh Zienolddiny, Stephen Lam, Loïc Le Marchand, Iona Cheng, Matthew B. Schabath, Eric J. Duell, Angeline S. Andrew, Jonas Manjer, Philip Lazarus, Susanne Arnold, James D. McKay, Nima C. Emami, Matthew T. Warkentin, Yonathan Brhane, Ma’en Obeidat, Richard M. Martin, Caroline Relton, George Davey Smith, Philip C. Haycock, Christopher I. Amos, Paul Brennan, John S. Witte, Rayjean J. Hung
    bioRxiv 635318; doi: https://doi.org/10.1101/635318 New Results
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  • The Reissner Fiber is Highly Dynamic in vivo and Controls Morphogenesis of the Spine
    Benjamin Troutwine, Paul Gontarz, Ryoko Minowa, Adrian Monstad-Rios, Mia J. Konjikusic, Diane S. Sepich, Ronald Y. Kwon, Lilianna Solnica-Krezel, Ryan S. Gray
    bioRxiv 847301; doi: https://doi.org/10.1101/847301 New Results
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  • Is HSPG2 a modifier gene for Marfan syndrome?
    Isabela Gerdes Gyuricza, Rodrigo Barbosa de Souza, Luis Ernesto Farinha-Arcieri, Gustavo Ribeiro Fernandes, Lygia V. Pereira
    bioRxiv 849133; doi: https://doi.org/10.1101/849133 New Results
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  • Oncologic therapy shapes the fitness landscape of clonal hematopoiesis
    Kelly L Bolton, Ryan N Ptashkin, Teng Gao, Lior Braunstein, Sean M Devlin, Daniel Kelly, Minal Patel, Antonin Berthon, Aijazuddin Syed, Mariko Yabe, Catherine C. Coombs, Nicole M. Caltabellotta, Mike Walsh, Kenneth Offit, Zsofia Stadler, Diana Mandelker, Jessica Schulman, Akshar Patel, John Philip, Elsa Bernard, Gunes Gundem, Juan E Arango, Max Levine, Juan S Medina, Noushin Farnoud, Dominik Glodzik, Sonya Li, Marc E Robson, Choonsik Lee, Paul D P Pharoah, Konrad Stopsack, Barbara Spitzer, Simon Mantha, James Fagin, Laura Boucai, Christopher J Gibson, Benjamin L Ebert, Andrew Young, Todd Druley, Koichi Takahasi, Nancy Gillis, Markus Ball, Eric Padron, David M Hyman, Jose Baselga, Larry Norton, Stuart Gardos, Virginia M Klimek, Howard Scher, Dean Bajorin, Eder Paraiso, Ryma Benayed, Maria E Arcila, Marc Ladanyi, David B Solit, Michael F Berger, Martin Tallman, Montserrat Garcia-Closas, Nilanjan Chatterjee, Luis A Diaz Jr., Ross L Levine, Lindsay M Morton, Ahmet Zehir, Elli Papaemmanuil
    bioRxiv 848739; doi: https://doi.org/10.1101/848739 New Results
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  • FUS gene is dual-coding with both proteins united in molecular hallmarks of amyotrophic lateral sclerosis
    Marie A. Brunet, Jean-Francois Jacques, Sonya Nassari, Giulia E. Tyzack, Philip McGoldrick, Lorne Zinman, Steve Jean, Janice Robertson, Rickie Patani, Xavier Roucou
    bioRxiv 848580; doi: https://doi.org/10.1101/848580 New Results
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  • Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease
    Doruk Beyter, Helga Ingimundardottir, Hannes P. Eggertsson, Eythor Bjornsson, Snaedis Kristmundsdottir, Svenja Mehringer, Hakon Jonsson, Marteinn T. Hardarson, Droplaug N. Magnusdottir, Ragnar P. Kristjansson, Sigurjon A. Gudjonsson, Sverrir T. Sverrisson, Guillaume Holley, Gudmundur Eyjolfsson, Isleifur Olafsson, Olof Sigurdardottir, Gisli Masson, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Olafur T. Magnusson, Bjarni V. Halldorsson, Kari Stefansson
    bioRxiv 848366; doi: https://doi.org/10.1101/848366 New Results
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  • Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics
    Silvia Di Maio, Gertraud Streiter, Rebecca Grüneis, Claudia Lamina, Manuel Maglione, Dietmar Öfner, Barbara Thorand, Annette Peters, Kai-Uwe Eckardt, Anna Köttgen, Florian Kronenberg, Stefan Coassin
    bioRxiv 848945; doi: https://doi.org/10.1101/848945 New Results
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  • Mitochondrial DNA Copy Number and Incident Atrial Fibrillation
    Di Zhao, Traci M. Bartz, Nona Sotoodehnia, Wendy S. Post, Susan R. Heckbert, Alvaro Alonso, Ryan J. Longchamps, Christina A. Castellani, Yun Soo Hong, Jerome I. Rotter, Henry J. Lin, Brian O’Rourke, Nathan Pankratz, John A Lane, Stephanie Y. Yang, Eliseo Guallar, Dan E. Arking
    bioRxiv 848085; doi: https://doi.org/10.1101/848085 New Results
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  • A Trypanosoma brucei ORFeome-based Gain-of-Function Library reveals novel genes associated with melarsoprol resistance
    M Carter, HS Kim, S Gomez, S Gritz, S Larson, D Schulz, GA Hovel-Miner
    bioRxiv 849042; doi: https://doi.org/10.1101/849042 New Results
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