Preprint > Page 10
  • bioRxiv  ·  July 2, 2025  ·  Preprint

    Perplexity as a Metric for Isoform Diversity in the Human Transcriptome.

    Megan D Schertzer, Stella H Park, Jiayu Su, Gloria M Sheynkman, David A Knowles

    link out icon
  • medRxiv  ·  June 17, 2025  ·  Preprint

    FUS Mislocalization Rewires a Cortical Gene Network to Drive Cognitive and Behavioral Impairment in ALS.

    Raphaelle Cassel, Félicie Lorenc, Aurélie Bombardier, Claudia De Tapia, Stéphane Dieterle, Cláudio Gouveia Roque, Christopher A. Jackson, Geoffrey Stuart-Lopez, Caroline Rouaux, Simon J. Guillot, Marie-Christine Birling, Pascal Kessler, Maurizio Grassano, Bryan Traynor, Adriano Chio, Raju Roy, James Shorter, Fergal M. Waldron, Jenna M. Gregory, Hemali Phatnani, Luc Dupuis, Salim Megat

    link out icon
  • medRxiv  ·  June 11, 2025  ·  Preprint

    GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits.

    Banabithi Bose, Freida Bolstein, Jeewoo Kim, Jessica Winters, Ky’Era Actkins, David Mayer, Maria Niarchou, Harrshavasan T.S Congivaram, Digna R Velez Edwards, Lea Davis, Barbara Stranger

    link out icon
  • medRxiv  ·  June 10, 2025  ·  Preprint

    Unraveling temporal dynamics of the post-mortem transcriptome in amyotrophic lateral sclerosis.

    Ting Shen, Barbara E. Spencer, Pavel P. Kuksa, Vivianna M. Van Deerlin, Hemali Phatnani, NYGC ALS Consortium, Edward B. Lee, Corey T. McMillan

    link out icon
  • medRxiv  ·  June 4, 2025  ·  Preprint

    Mosaic chromosomal alterations in blood are associated with an increased risk of Alzheimer’s disease.

    Tatsuhiko Naito, Kosei Hirata, Beomjin Jang, Chirag M. Lakhani, Alice Buonfiglioli, Wan-Ping Lee, Otto Valladares, Li-San Wang, Yukinori Okada, Hong-Hee Won, Eirini P. Papapetrou, Samuele G. Marro, David A. Knowles, Towfique Raj

    link out icon
  • medRxiv  ·  June 2, 2025  ·  Preprint

    Omic Risk Scores are Associated with COPD-related Traits Across Three Cohorts.

    Iain R Konigsberg, Luciana B Vargas, Katherine A Pratte, Daniel E Guzman, Tess D Pottinger, Kristina L Buschur, Thomas W Blackwell, Yongmei Liu, Kent D Taylor, W Craig Johnson, Peter Durda, Russell P Tracy, Ani Manichaikul, Elizabeth C Oelsner, Stacey Gabriel, Namrata Gupta, Suna Onengut-Gumuscu, Joshua D Smith, Francois Aguet, Kristin Ardlie, Usman A Tahir, Robert E Gerszten, Clary Clish, Eugene R Bleecker, Deborah A Meyers, Victor E Ortega, Stephanie A Christenson, Dawn L DeMeo, Brian D Hobbs, Craig P Hersh, Peter J Castaldi, Jeffrey L Curtis, R Graham Barr, Jerome I Rotter, Stephen S Rich, Prescott G Woodruff, Edwin K Silverman, Michael H Cho, Katerina J Kechris, Russell P Bowler, Ethan M Lange, Leslie A Lange, Matthew R Moll, on behalf of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

    link out icon
  • bioRxiv  ·  May 16, 2025  ·  Preprint

    Single-Cell RNA Sequencing and Inferred Protein Activity Analysis Reveal a Distinct Tumor Phenotype in Early-Onset Colorectal Cancer Patients.

    David A Cohen, Aleksandar Obradovic, Luka Jovanovic, Yosuke Mitani, Tianxia Li, Soobeom Lee, Dechokyab De, Casidhe-Nicole Bethancourt, Alice Shin, Karen Dunbar, Francesco Cambuli, Christopher Lengner, Ning Li, Caitlin Rogers, Jennifer Ho, Viktoria Jakubikova, Emma Blystone, Yoanna Pumpalova, Beatrice Dionigi, Sanja Vicković, Chia-Wei Cheng, Joel Gabre

    link out icon
  • bioRxiv  ·  May 8, 2025  ·  Preprint

    A computational framework for mapping isoform landscape and regulatory mechanisms from spatial transcriptomics data.

    Jiayu Su, Yiming Qu, Megan D Schertzer, Haochen Yang, Jiahao Jiang, Tenzin Lhakhang, Theodore M Nelson, Stella Park, Qiliang Lai, Xi Fu, Seung-Won Choi, David A Knowles, Raul Rabadan

    link out icon
  • medRxiv  ·  May 11, 2025  ·  Preprint

    Single cell multiomics reveals drivers of metabolic dysfunction-associated steatohepatitis.

    Weston Elison, Lei Chang, Yang Xie, Charlene Miciano, Qian Yang, Hannah Mummey, Ryan Lancione, Sierra Corban, Sadatsugu Sakane, Jacinta Lucero, Sainath Mamde, Hyun Kim, Matthew J Kim, Rebecca Melton, Luca Tucciarone, Audrey Lie, Timothy Loe, Tanmayi Vashist, Kelsey Dang, Ruth M Elgamal, Daofeng Li, Melissa Vu, Elie N Farah, Chad Seng, Jovina Djulamsah, Bing Yang, Justin Buchanan, Michael Miller, Mai Tran, Janeth Birrueta, Neil C Chi, Ting Wang, Agnieszka D’Antonio-Chronowska, Allen Wang, Tatiana Kisseleva, David Brenner, Bing Ren, Kyle Gaulton

    link out icon
  • medRxiv  ·  May 9, 2025  ·  Preprint

    Single cell multiomics and 3D genome architecture reveal novel pathways of human heart failure.

    Yang Xie, Luca Tucciarone, Elie N Farah, Lei Chang, Qian Yang, Thirupura S Shankar, Weston Elison, Shaina Tran, Jovina Djulamsah, Audrey Lie, Timothy Loe, Alyssa R Holman, Sierra Corban, Justin Buchanan, Sainath Mamde, Haowen Zhou, Ruth M Elgamal, Eleni Tseliou, Vincent Huang, Zhaoning Wang, Jeffrey Chiu, Rebecca Melton, Emily Griffin, Qingquan Zhang, Jacinta Lucero, Sutip Navankasattusas, Daofeng Li, Chanrung Seng, Eugin Destici, Craig H Selzman, Agnieszka D’Antonio-Chronowska, Ting Wang, Allen Wang, Stavros G Drakos, Kyle J Gaulton, Bing Ren, Neil C Chi

    link out icon
Decorative image color fade left Decorative image color fade right Decorative image color fade