Preprint > Page 13
  • medRxiv  ·  December 8, 2024  ·  Preprint

    Epigenome-wide Association Analysis of Mitochondrial Heteroplasmy Provides Insight into Molecular Mechanisms of Disease.

    Meng Lai, Kyeezu Kim, Yinan Zheng, Christina A. Castellani, Scott M. Ratliff, Mengyao Wang, Xue Liu, Jeffrey Haessler, Tianxiao Huan, Lawrence F. Bielak, Wei Zhao, Roby Joehanes, Jiantao Ma, Xiuqing Guo, JoAnn E. Manson, Megan L. Grove, Jan Bressler, Kent D. Taylor, Tuuli Lappalainen, Silva Kasela, Thomas W. Blackwell, Nicole J. Lake, Jessica D. Faul, Kendra R. Ferrier, Lifang Hou, Charles Kooperberg, Alexander P. Reiner, Kai Zhang, Patricia A. Peyser, Myriam Fornage, Eric Boerwinkle, Laura M. Raffield, April P. Carson, Stephen S. Rich, Yongmei Liu, Daniel Levy, Jerome I. Rotter, Jennifer A. Smith, Dan E. Arking, Chunyu Liu, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

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  • medRxiv  ·  December 13, 2024  ·  Preprint

    Deriving Mendelian Randomization-based Causal Networks of Brain Imaging Phenotypes and Bipolar Disorder.

    Shane O’Connell, Brielin C. Brown, Dara M. Cannon, Pilib Ó Broin, David A. Knowles, Nadine Parker, Dag Alnæs, Lars T. Westlye, Saikat Banerjee, Leila Nabulsi, Emma Corley, Ole A. Andreassen, Niamh Mullins

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  • medRxiv  ·  December 8, 2024  ·  Preprint

    Leveraging functional annotations to map rare variants associated with Alzheimer’s disease with gruyere.

    Anjali Das, Chirag Lakhani, Chloé Terwagne, Jui-Shan Lin, Tatsuhiko Naito, Towfique Raj, David A Knowles

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  • bioRxiv  ·  November 27, 2024  ·  Preprint

    Paired CRISPR screens to map gene regulation in cis and trans.

    Xinhe Xue, Zoran Z. Gajic, Christina M. Caragine, Mateusz Legut, Conor Walker, James Y.S. Kim, Xiao Wang, Rachel E. Yan, Hans-Hermann Wessels,Congyi Lu, Neil Bapodra,Gamze Gürsoy, Neville E. Sanjana

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  • bioRxiv  ·  November 14, 2024  ·  Preprint

    Single-cell transcriptomic landscape of the neuroimmune compartment in amyotrophic lateral sclerosis brain and spinal cord.

    John F. Tuddenham, Masashi Fujita, Anthony Khairallah, Claire Harbison, Xena E. Flowers, Guillermo Coronas-Samano, Silas Maniatis, Aidan Daly, Julie A. Schneider, Andrew F. Teich, Jean Paul G. Vonsattel, Peter A. Sims, Wassim Elyaman, Elizabeth M. Bradshaw, Hemali Phatnani, Neil Shneider, David A. Bennett, Philip L. De Jager, Serge Przedborski, Vilas Menon and Marta Olah

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  • bioRxiv  ·  October 17, 2024  ·  Preprint

    An analysis of RNA quality metrics in human brain tissue.

    Jiahe Tian, Tiffany Lam, Sophie Ross, Benjamin Ciener, Sandra Leskinen, Sharanya Sivakumar, David A Bennett, Vilas Menon, Guy M McKhann, Alexi Runnels, Andrew Teich

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  • bioRxiv  ·  October 16, 2024  ·  Preprint

    A Reproducibility Focused Meta-Analysis Method for Single-Cell Transcriptomic Case-Control Studies Uncovers Robust Differentially Expressed Genes.

    Nathan Joel Nakatsuka, Drew Adler, Longda Jiang, Austin Hartman, Evan Cheng, Eric Klann, Rahul Satija

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  • bioRxiv  ·  October 15, 2024  ·  Preprint

    Efficient indexing and querying of annotations in a pangenome graph.

    Adam M. Novak, Dickson Chung, Glenn Hickey, Sarah Djebali, Toshiyuki T. Yokoyama, Erik Garrison, Giuseppe Narzisi, Benedict Paten, Jean Monlong

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  • bioRxiv  ·  October 11, 2024  ·  Preprint

    Targetable treatment resistance in thyroid cancer with clonal hematopoiesis.

    Vera Tiedje, Pablo Sánchez Vela, Julie L. Yang, Brian R. Untch, Laura Boucai, Aaron J. Stonestrom, Alberto Bueno Costa, Sebastià Franch Expósito, Avi Srivastava, Marina Kerpelev, Jillian Greenberg, Mathew Wereski, Amanda Kulick, Kevin Chen, Tianyue Qin, Soo-Yeon Im, Aishwarya Krishnan, Anthony R. Martinez Benitez, Raquel Pluvinet, Merve Sahin, Kamal Menghrajani, Gnana P. Krishnamoorthy, Elisa de Stanchina, Ahmet Zehir, Rahul Satija, Jeffrey Knauf, Robert L Bowman, Manel Esteller, Sean Devlin, Michael F. Berger, Richard P. Koche, James A. Fagin, Ross L Levine

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  • bioRxiv  ·  September 25, 2024  ·  Preprint

    Complex genetic variation in nearly complete human genomes.

    Glennis A. Logsdon, Peter Ebert, Peter A. Audano, Mark Loftus, David Porubsky, Jana Ebler, Feyza Yilmaz, Pille Hallast, Timofey Prodanov, DongAhn Yoo, Carolyn A. Paisie, William T. Harvey, Xuefang Zhao, Gianni V. Martino, Mir Henglin, Katherine M. Munson, Keon Rabbani, Chen-Shan Chin, Bida Gu, Hufsah Ashraf, Olanrewaju Austine-Orimoloye, Parithi Balachandran, Marc Jan Bonder, Haoyu Cheng, Zechen Chong, Jonathan Crabtree, Mark Gerstein, Lisbeth A Guethlein, Patrick Hasenfeld, Glenn Hickey, Kendra Hoekzema, Sarah E Hunt, Matthew Jensen, Yunzhe Jiang, Sergey Koren, Youngjun Kwon, Chong Li, Heng Li, Jiaqi Li, Paul J Norman, Keisuke K. Oshima, Benedict Paten, Adam M. Phillippy, Nicholas R Pollock, Tobias Rausch, Mikko Rautiainen, Stephan Scholz, Yuwei Song, Arda Soylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C. Zody, Ryan E. Mills, Scott E. Devine, Xinghua Shi, Mike E Talkowski, Mark J.P. Chaisson, Alexander T Dilthey, Miriam K. Konkel, Jan O. Korbel, Charles Lee, Christine R. Beck, Evan E. Eichler and Tobias Marschall

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