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Genetics

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  • Metabolomic signature of angiopoietin-like protein 3 deficiency in fasting and postprandial state
    Emmi Tikkanen, Ilenia Minicocci, Jenni Hallfors, Alessia Di Costanzo, Laura Erasmo, Eleonora Poggiogalle, Lorenzo Donini, Peter Wurtz, Matti Jauhiainen, Vesa Olkkonen, Marcello Arca
    bioRxiv 441857; doi: https://doi.org/10.1101/441857 New Results
  • Cleft lip/palate and educational attainment: cause, consequence, or correlation? A Mendelian randomization study
    Christina Dardani, Laurence Howe, Evie Stergiakouli, Yvonne Wren, Kerry Humphries, Amy Davies, Karen Ho, Elisabeth Mangold, Kerstin Ludwig, Caroline L Relton, George Davey Smith, Sarah J Lewis, Jonathan Sandy, Neil M Davies, Gemma Sharp
    bioRxiv 434126; doi: https://doi.org/10.1101/434126 New Results
  • Genes with high network connectivity are enriched for disease heritability
    Samuel S Kim, Chengzhen Dai, Farhad Hormozdiari, Bryce van de Geijn, Steven Gazal, Yongjin Park, Luke O'Connor, Tiffany Amariuta, Po-Ru Loh, Hilary Finucane, Soumya Raychaudhuri, Alkes L Price
    bioRxiv 442582; doi: https://doi.org/10.1101/442582 New Results
  • Overdispersed gene expression characterizes schizophrenic brains
    Guangzao Huang, Daniel Camilo Osorio Hurtado, Jinting Guan, Guoli Ji, James Cai
    bioRxiv 441527; doi: https://doi.org/10.1101/441527 New Results
  • A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing
    Stephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, Justin Zook, Joshua Paul, Vince Ramey, Marc Salit, Heidi Rehm, Robert Nussbaum, Matthew Lebo
    bioRxiv 335950; doi: https://doi.org/10.1101/335950 New Results
  • Transcriptome-wide association studies: opportunities and challenges
    Michael Wainberg, Nasa Sinnott-Armstrong, Nicholas Mancuso, Alvaro N. Barbeira, David Knowles, David Golan, Raili Ermel, Arno Ruusalepp, Thomas Quertermous, Ke Hao, Johan L. M. Bjorkegren, Hae Kyung Im, Bogdan Pasaniuc, Manuel A. Rivas, Anshul Kundaje
    bioRxiv 206961; doi: https://doi.org/10.1101/206961 New Results
  • Balancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigs
    Oswald Matika, Diego Robledo, Ricardo Pong-Wong, Stephen C. Bishop, Valentina Riggio, Heather Finlayson, Natalie R. Lowe, Annabelle E. Hoste, Grant A. Walling, Alan L. Archibald, John A. Woolliams, Ross D. Houston
    bioRxiv 442012; doi: https://doi.org/10.1101/442012 New Results
  • Oncogenic effects of germline mutations in lysosomal storage disease genes
    Junghoon Shin, Daeyoon Kim, Hyung-Lae Kim, Murim Choi, Jan Korbel, Sung-Soo Yoon, Youngil Koh, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Network
    bioRxiv 380121; doi: https://doi.org/10.1101/380121 New Results
  • Standardized biogeographic grouping system for annotating populations in pharmacogenetic research
    Rachel Huddart, Alison E Fohner, Michelle Whirl-Carrillo, Genevieve L Wojcik, Christopher R Gignoux, Alice B Popejoy, Carlos D Bustamante, Russ B Altman, Teri Klein
    bioRxiv 384016; doi: https://doi.org/10.1101/384016 New Results
  • Overlooked roles of DNA damage and maternal age in generating human germline mutations
    Ziyue Gao, Priya Moorjani, Thomas Sasani, Brent Pedersen, Aaron Quinlan, Lynn Jorde, Guy Amster, Molly Przeworski
    bioRxiv 327098; doi: https://doi.org/10.1101/327098 New Results

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