Genetics

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  • A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa
    Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill
    bioRxiv 480343; doi: https://doi.org/10.1101/480343 New Results
  • Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
    F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Lewis Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth Guerrero, Caroline Dias, Branko Aleksic, Richard JL Anney, Mafalda Barbosa, Somer Bishop, Alfredo Brusco, Jonas Bybjerg-Grauholm, Angel Carracedo, Marcus C. Y. Chan, Andreas Chiocchetti, Brian Chung, Hilary Coon, Michael Cuccaro, Aurora Curró, Bernardo Dalla Bernardina, Ryan Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M Freitag, Menachem Fromer, J. Jay Gargus, Daniel Geschwind, Elisa Giorgio, Javier González-Peñas, Stephen Guter, Danielle Halpern, Emily Hassen-Kiss, Xin He, Gail Herman, Irva Hertz-Picciotto, David M Hougaard, Christina M Hultman, Iuliana Ionita-Laza, Suma Jacob, Jesslyn Jamison, Astanand Jugessur, Miia Kaartinen, Gun Peggy Knudsen, Alexander Kolevzon, Itaru Kushima, So Lun Lee, Terho Lehtimäki, Elaine T Lim, Carla Lintas, W. Ian Lipkin, Diego Lopergolo, Fátima Lopes, Yunin Ludena, Patricia Maciel, Per Magnus, Behrang Mahjani, Nell Maltman, Dara S Manoach, Gal Meiri, Idan Menashe, Judith Miller, Nancy Minshew, Eduarda Montenegro M. de Souza, Danielle Moreira, Eric Morrow, Ole Mors, Preben Bo Mortensen, Matthew Mosconi, Pierandrea Muglia, Benjamin Neale, Merete Nordentoft, Norio Ozaki, Aarno Palotie, Mara Parellada, Maria Rita Passos-Bueno, Margaret Pericak-Vance, Antonio Persico, Isaac Pessah, Kaija Puura, Abraham Reichenberg, Alessandra Renieri, Evelise Riberi, Elise Robinson, Kaitlin E Samocha, Sven Sandin, Susan L Santangelo, Gerry Schellenberg, Stephen Scherer, Sabine Schlitt, Rebecca Schmidt, Lauren Schmitt, Isabela Maya W. Silva, Tarjinder Singh, Paige Siper, Moyra Smith, Gabriela Soares, Camilla Stoltenberg, Pål Suren, Ezra Susser, John Sweeney, Peter Szatmari, Lara Tang, Flora Tassone, Karoline Teufel, Elisabetta Trabetti, Maria del Pilar Trelles, Christopher Walsh, Lauren Weiss, Thomas Werge, Donna Werling, Emilie M Wigdor, Emma Wilkinson, Jeremy A Willsey, Timothy Yu, Mullin H.C. Yu, Ryan Yuen, Elaine Zachi, Catalina Betancur, Edwin H. Cook, Louise Gallagher, Michael Gill, Thomas Lehner, Geetha Senthil, James S. Sutcliffe, Audrey Thurm, Michael E. Zwick, Anders D. Børglum, Matthew W. State, A. Ercument Cicek, Michael E. Talkowski, David J. Cutler, Bernie Devlin, Stephan J. Sanders, Kathryn Roeder, Joseph D. Buxbaum, Mark J. Daly
    bioRxiv 484113; doi: https://doi.org/10.1101/484113 New Results
  • A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase
    Song Sun, Jochen Weile, Marta Verby, Atina G Cote, Yingzhou Wu, Iosifina Fotiadou, Julia Kitaygorodsky, Jasper Rine, Pavel Ješina, Viktor Koźich, Frederick P Roth
    bioRxiv 473983; doi: https://doi.org/10.1101/473983 New Results
  • Quantifying the potential for future gene therapy to lower lifetime risk of polygenic late-onset diseases
    Roman Teo Oliynyk
    bioRxiv 390773; doi: https://doi.org/10.1101/390773 New Results
  • Age-related late-onset disease heritability patterns and implications for genome-wide association studies
    Roman Teo Oliynyk
    bioRxiv 349019; doi: https://doi.org/10.1101/349019 New Results
  • Large-scale neuroimaging and genetic study reveals genetic architecture of brain white matter microstructure
    Bingxin Zhao, Jingwen Zhang, Joseph Ibrahim, Rebecca Santelli, Yun Li, Tengfei Li, Yue Shan, Ziliang Zhu, Fan Zhou, Huiling Liao, Thomas Nichols, Hongtu Zhu
    bioRxiv 288555; doi: https://doi.org/10.1101/288555 New Results
  • Usefulness Criterion and post-selection Parental Contributions in Multi-parental Crosses: Application to Polygenic Trait Introgression
    Antoine Allier, Laurence Moreau, Alain Charcosset, Simon Teyssèdre, Christina Lehermeier
    bioRxiv 484287; doi: https://doi.org/10.1101/484287 New Results
  • Who's who in the western Hermann's tortoise conservation: a STR toolkit and a reference database for wildlife forensic genetic analyses
    Roberto Biello, Mauro Zampiglia, Claudia Corti, Gianluca Deli, Marta Biaggini, Michel Delaugerre, Luciano Di Tizio, Francesco Luigi Leonetti, Oliviero Olivieri, Francesco Pellegrino, Antonio Romano, Emilio Sperone, Massimo Trabalza-Marinucci, Giorgio Bertorelle, Daniele Canestrelli
    bioRxiv 484030; doi: https://doi.org/10.1101/484030 New Results
  • Genetic differences in host infectivity affect disease spread and survival in epidemics
    Osvaldo Anacleto, Santiago Cabaleiro, Beatriz Villanueva, Maria Saura, Ross Houston, John A Woolliams, Andrea B Doeschl-Wilson
    bioRxiv 483602; doi: https://doi.org/10.1101/483602 New Results
  • First genome-wide association study of non-severe malaria in two birth cohorts in Benin: hints towards the involvement of the STAT3 pathway.
    Jacqueline Milet, Anne Boland, Pierre Luisi, Audrey Sabbagh, Ibrahim Sadissou, Paulin Saunon, Nadia Domingo, Friso Palstra, Laure Gineau, David Courtin, Achille Massougbodji, André Garcia, Jean-François Deleuze, Hervé Perdry
    bioRxiv 483859; doi: https://doi.org/10.1101/483859 New Results

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