Preprint > Page 6
  • bioRxiv  ·  December 18, 2025  ·  Preprint

    Wavelet Based Whole Genome Doubling Aware Single Cell Copy Number Calling.

    Benjamin Kumar Wesley, Frank Wos, Soren GRermer, Jade EB Carter, Silas Maniatis, Khanh N Dinh, Timothy Chu, Nicolas Robine, Rebecca Fitzgerald, Lizhe Zhuang Simon Tavare, Karol Nowicki-Osuch.

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  • medRxiv  ·  December 20, 2025  ·  Preprint

    Regulatory landscape of Alzheimer’s disease variants in human microglia.

    Chia-Yi Lee, Ashvin Ravi, Tzu-Chieh Huang, Briana Wyman, Ziyu Liu, Ariana Chriss, Jack Humphrey, David A. Knowles, Chris Cotsapas, Laura M. Huckins, Towfique Raj, Kristen J. Brennand

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  • medRxiv  ·  December 18, 2025  ·  Preprint

    Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.

    Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein, Marcela Mendoza, Eric Song, Bence Kotis, Paul Hoffman, PCGC Consortium, Ali Torkamani, David R Adams, Carsten Bonnemann, Tuuli Lappalainen, Pejman Mohammadi

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  • bioRxiv  ·  December 10, 2025  ·  Preprint

    Reconstructing developmental and disease progression with sample-level embeddings.

    Longda Jiang, Zhixin Cyrillus Tan, Isabella N. Grabski, Yuhan Hao, Nathan Nakatsuka, Sourav Sarkar, Anagha Shenoy, Rahul Satija.

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  • bioRxiv  ·  December 12, 2025  ·  Preprint

    Engineered AAV Capsids with Enhanced Extracellular Vesicle Loading via Rational Design and Directed Evolution.

    oulia Vorobieva, Marina Luchner, Hans friedrichsen, Ruhani Makkar, Simon Chester, Emily Haughton, Mariana Conceicao, Harrison Steel, Stephan J Sanders, Matthew Wood, Dhanu Gupta.

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  • bioRxiv  ·  December 9, 2025  ·  Preprint

    Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease.

    Eloise S Beer Wells, Laura De Conti, Hyung Chul Kim, Narjes Rohani, V Kartik S Chundru, Laura M Watts, Ruebena Dawes, Yuyang Chen, Alexandra C Martin-Geary, Michael J Griffiths, Sam Scott, Rosemary Bamford, Jonathan Mill, Caroline Wright, Marco Baralle, Stephan J Sanders, Nicola Whiffin

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  • bioRxiv  ·  December 8, 2025  ·  Preprint

    RamanOmics Decodes Spatial Vibrational-Molecular Architecture and Rewiring in Aging and Repair

    Ke Zhang, Xingjian Chen, Francesco Monticolo, Salvatore Sorrentino, Haochun Huang, Claire Callahan, Yueqing Qiao, Judy Zhou, Sonia Brodowska, Styliani Sapantzi, Jianhuan Qi, Yinghan Wu, Thai Nam Son Dang, Francesca Viggiani, Chia-Kang Ho, Yanxin Xu, Koseki J. Kobayashi-Kirschvink, Thang Mung, Hemali Phatnani, Zhixun Dou, Jeon Woong Kang, Peter T. C. So, Jian Shu

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  • bioRxiv  ·  December 2, 2025  ·  Preprint

    Multiscale Spatial Transcriptomic Atlas of Human Basal Ganglia Cell-Type and Cellular Community Organization.

    Bereket Tesfay Berackey, Zhiqun Tan, Ginny Wu, Sujan C Das, Ren Li, Benjamin Esser, Qiao Ye, Mahsa Nafisi, Samuel S Park, Pedro Adolfo Sequeira Mendieta, Jillian Berry, Firoza Mamdani, Quan Zhu, Todd C Holmes, Daofeng Li, Ting Wang, M. Margarita Behrens, Bing Ren, Joseph R Ecker, Bogdan Bintu, Xiangmin Xu.

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  • medRxiv  ·  December 3, 2025  ·  Preprint

    Machine Learning-Based Prediction of Cell-type Resolved Brain eQTLs Enhances Discovery of Variants Explainin.g Alzheimer’s Disease Heritability

    Chirag M Lakhani, Giacomo Cavalca, Anjing Liu, Rohan Nidumbur, Ru Feng, Towfique Raj, Philip De Jager, The Alzheimer’s Disease Functional Genomics Consortium, Gao Wang, David A. Knowles.

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  • medRxiv  ·  December 2, 2025  ·  Preprint

    Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors.

    Laura Vilar-Ribó, Mariela V Jennings, Aisha Sallah, Zeal Jinwala, Hayley HA Thorpe, Sevim B Bianchi, John Meredith, Kyra Feuer, Lydia Rader, Natasia Courchesne-Krak, Maria Niarchou, Jared Balbona, 23andMe Research Team, Sarah L Elson, Pierre Fontanillas, Emma C Johnson, Lea K Davis, Alexander S Hatoum, Travis T Mallard, Daniel E Gustavson, Hang Zhou, Abraham A Palmer, Jeanne E Savage, Rachel L Kember, Sandra Sanchez-Roige

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