• Nature Communications  ·  July 29, 2025

    Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox.

    Megan D. Schertzer, Andrew Stirn, Keren Isaev, Laura Pereira, Stella H. Park, Anjali Das, Aline Réal, Erin D. Jeffery, Claire Harbison, Hans-Hermann Wessels, Gloria M. Sheynkman, Neville E. Sanjana & David A. Knowles

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  • Acta Neuropathol  ·  July 29, 2025

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

    John F. Tuddenham, Masashi Fujita, Emily Lee, Nivedita Nimmagadda, 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, Lyle W. Ostrow, Hemali Phatnani, Neil A. Shneider, David A. Bennett, Philip L. De Jager, Serge Przedborski, Vilas Menon & Marta Olah

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  • Scandinavian Journal of Immunology  ·  July 28, 2025

    Multiparametric Optimization of Human Primary B-Cell Cultures Using Design of Experiments.

    Anne Bruun Rovsing, Kenneth Green, Lisbeth Jensen, Ian Helstrup Nielsen, Jacob Giehm Mikkelsen, Søren E. Degn

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  • Proceedings of the National Academy of Sciences of the United States of America  ·  July 28, 2025

    Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

    Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U Rehman, Carol Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W Scherer, Ingo Helbig, Amita Sehgal.

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  • Cell Reports Method  ·  July 25, 2025

    Recent advances and future prospects for blockchain in biomedicine.

    Eric Ni, Xiangru Tang, Xiao Zhou, Danielle Lee, Ahmed Elhussein, Elizabeth Knight, Gamze Gürsoy, Mark Gerstein

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  • Genetics in Medicine Open  ·  July 24, 2025

    Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).

    Vimla S. Aggarwal, Saurav Guha, Matthew S. Lebo, Kyle Retterer, Curt Scharfe, Lora J.H. Bean, on behalf of the ACMG Laboratory Quality Assurance Committee.

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  • Nature  ·  July 23, 2025

    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, Stephan Scholz, 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, Yuwei Song, Arda Söylev, Arvis Sulovari, Likhitha Surapaneni, Vasiliki Tsapalou, Weichen Zhou, Ying Zhou, Qihui Zhu, Michael C. Zody, Ryan E. Mills, Scott E. Devine, Xinghua Shi, Michael E. Talkowski, Mark J. P. Chaisson, Alexander T. Dilthey, Miriam K. Konkel, Jan O. Korbel, Charles Lee, Christine R. Beck, Evan E. Eichler & Tobias Marschall

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  • Cell  ·  July 22, 2025

    SPIDR enables multiplexed mapping of RNA-protein interactions and uncovers a mechanism for selective translational suppression upon cell stress.

    Erica Wolin, Jimmy K. Guo, Mario R. Blanco, Isabel N. Goronzy, Darvesh Gorhe, Wenzhao Dong, Andrew A. Perez, Abdurrahman Keskin, Elizabeth Valenzuela, Ahmed A. Abdou, Carl R. Urbinati, Ross Kaufhold, H. Tomas Rube, Jailson Brito Querido, Mitchell Guttman, Marko Jovanovic

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  • eLife  ·  July 22, 2025

    Metastatic small cell lung cancer arises from TP53/RB1-deficient and MYC overproduction hESC-derived PNECs.

    Huanhuan Joyce Chen, Eric E Gardner, Yajas Shah, Kui Zhang, Abhimanyu Thakur, Chen Zhang, Olivier Elemento, Harold Varmus

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  • Human Genetics and Genomics Advances  ·  July 18, 2025

    Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.

    Nina Žakelj, David Gosar, Špela Miroševič, Stephan J. Sanders, Alicia Ljungdhal, Sayeh Kohani, Shouhe Huang, Lok I. Leong, Ying An, Miou-Jing Teo, Fiona Moultrie, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Leszek Lisowski, Andrea Perez-Iturralde, Jasna Oražem Mrak, Ho Yin Edwin Chan, Damjan Osredkar

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  • Nature Genetics  ·  July 21, 2025

    A contextual genomic perspective on physical activity and its relationship to health, well being and illness.

    Marco Galimberti, Daniel F. Levey, Joseph D. Deak, Keyrun Adhikari, Cassie Overstreet, Priya Gupta, Rachana Nitin, Hang Zhou, Nicole J. Lake, Kelly M. Harrington, Luc Djousse, Lea K. Davis, VA Million Veteran Program, J. Michael Gaziano, Murray B. Stein & Joel Gelernter

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  • Neuron  ·  July 18, 2025

    Accelerating biomedical discoveries in brain health through transformative neuropathology of aging and neurodegeneration.

    Melissa E. Murray, Colin Smith, Vilas Menon, C. Dirk Keene, Ed Lein, Michael Hawrylycz, Adriano Aguzzi, Brett Benedetti, Katja Brose, Kelsey Caetano-Anolles, Maria Inmaculada Cobos Sillero, John F. Crary, Philip L. De Jager, Arline Faustin, Margaret E. Flanagan, Ozgun Gokce, Seth G.N. Grant, Lea T. Grinberg, David A. Gutman, Elizabeth M.C. Hillman, Zhi Huang, David J. Irwin, David T. Jones, Alifiya Kapasi, Celeste M. Karch, Walter T. Kukull, Tammaryn Lashley, Edward B. Lee, Thomas Lehner, Laura Parkkinen, Maria Pedersen, Dominique Pritchett, Matthew H. Rutledge, Julie A. Schneider, William W. Seeley, Claire E. Shepherd, Tara L. Spires-Jones, Judith A. Steen, Margaret Sutherland, Sanja Vickovic, Bin Zhang, David J. Stewart, Michael J. Keiser, Jacob W. Vogel, Brittany N. Dugger, Hemali Phatnani

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  • BMC Biology  ·  July 18, 2025

    A chromosome-level genome assembly of the Hispid cotton rat (Sigmodon hispidus), a model for human pathogenic virus infections.

    Jingtao Lilue, André Corvelo, Jèssica Gómez-Garrido, Keiko Akagi, Fengtang Yang, Gia Green, Bee Ling Ng, Beiyuan Fu, Uciel Pablo Chorostecki, Sarah C. Warner, Marina Marcet-Houben, Thomas M. Keane, James C. Mullikin, Tyler Alioto, Toni Gabaldón, Benjamin Hubert, David E. Symer & Stefan Niewiesk.

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  • Nature  ·  July 16, 2025

    Ongoing genome doubling shapes evolvability and immunity in ovarian cancer.

    Andrew McPherson, Ignacio Vázquez-García, Matthew A. Myers, Duaa H. Al-Rawi, Matthew Zatzman, Adam C. Weiner, Samuel Freeman, Neeman Mohibullah, Gryte Satas, Marc J. Williams, Nicholas Ceglia, Danguolė Norkūnaitė, Allen W. Zhang, Jun Li, Jamie L. P. Lim, Michelle Wu, Seongmin Choi, Eliyahu Havasov, Diljot Grewal, Hongyu Shi, Minsoo Kim, Roland F. Schwarz, Tom Kaufmann, Khanh Ngoc Dinh, Florian Uhlitz, Julie Tran, Yushi Wu, Ruchi Patel, Satish Ramakrishnan, DooA Kim, Justin Clarke, Hunter Green, Emily Ali, Melody DiBona, Nancy Varice, Ritika Kundra, Vance Broach, Ginger J. Gardner, Kara Long Roche, Yukio Sonoda, Oliver Zivanovic, Sarah H. Kim, Rachel N. Grisham, Ying L. Liu, Agnes Viale, Nicole Rusk, Yulia Lakhman, Lora H. Ellenson, Simon Tavaré, Samuel Aparicio, Dennis S. Chi, Carol Aghajanian, Nadeem R. Abu-Rustum, Claire F. Friedman, Dmitriy Zamarin, Britta Weigelt, Samuel F. Bakhoum & Sohrab P. Shah

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  • Scientific Data  ·  July 16, 2025

    Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.

    Jennifer H. McDaniel, Vaidehi Patel, Nathan D. Olson, Hua-Jun He, Zhiyong He, Kenneth D. Cole, Alexander A. Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J. Sedlazeck, Harsha Doddapaneni, Shalini N. Jhangiani, Donna M. Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F. Paulin, Alex R. Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R. Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B. Kingan, Christine Lambert, Primo Baybayan, Aaron M. Wenger, Ian J. McLaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H. Miga, Joshua Gardner, Brandy McNulty, Gail L. Rosen, Rajiv McCoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G. Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E. Mason, Mital S. Bhakta, J. Zachary Sanborn, Elizabeth M. Munding, Justin Wagner, Chunlin Xiao, Andrew S. Liss & Justin M. Zook

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  • Scientific Reports  ·  July 4, 2025

    Pan-cancer immune and stromal deconvolution predicts clinical outcomes and mutation profiles.

    Bhavneet Bhinder, Verena Friedl, Sunantha Sethuraman, Davide Risso, Kami E. Chiotti, R. Jay Mashl, Kyle P. Ellrott, Jordan A. Lee, Christopher K. Wong, Kofi Gyan, Aditya Deshpande, Marcin Imielinski, Rohan Bareja, Josh Stuart, Myron Peto, Katherine A. Hoadley, Alexander J. Lazar, Andrew D. Cherniack, Jingchun Zhu, Shaolong Cao, Mark Rubin, Wenyi Wang, Oliver F. Bathe, Nicolas Robine, Li Ding, Peter W. Laird, Wanding Zhou, Hui Shen, Vésteinn Thorsson, Jen Jen Yeh, Matthew H. Bailey, Daniel Cui Zhou, Xianlu L. Peng, Mary Goldman, Yongsheng Li, Anil Korkut, Nidhi Sahni, D. Neil Hayes, Michael K. A. Mensah, Ina Felau, Anab Kemal, Samantha Caesar-Johnson, John A. Demchok, Liming Yang, Martin L. Ferguson, Roy Tarnuzzer, Zhining Wang, Jean C. Zenklusen, The Cancer Genome Atlas Analysis Network, Paul Spellman & Olivier Elemento

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  • The Lancet Oncology  ·  July 4, 2025

    African self-sufficiency in cancer control.

    Davidi Tawfiles, Adda Bounedjar, Olusegun Isaac Alatise, T Peter Kingham, Onyinye D Balogun, Miriam Mutebi, Edward Christopher Dee

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  • 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

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  • Nature  ·  July 2, 2025

    The Somatic Mosaicism across Human Tissues Network.

    Tim H. H. Coorens, Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall, Alexej Abyzov, Lucinda Antonacci-Fulton, Samuel Aparicio, Kristin G. Ardlie, Thomas J. Bell, James T. Bennett, Bradley E. Bernstein, Thomas G. Blanchard, Alan P. Boyle, Jason D. Buenrostro, Kathleen H. Burns, Fei Chen, Rui Chen, Sangita Choudhury, Harsha V. Doddapaneni, Evan E. Eichler, Gilad D. Evrony, Melissa A. Faith, Thomas G. Fazzio, Robert S. Fulton, Manuel Garber, Nils Gehlenborg, Soren Germer, Gad Getz, Richard A. Gibbs, Raquel G. Hernandez, Fulai Jin, Jan O. Korbel, Dan A. Landau, Heather A. Lawson, Niall J. Lennon, Heng Li, Yan Li, Po-Ru Loh, Gabor Marth, Michael J. McConnell, Ryan E. Mills, Stephen B. Montgomery, Pradeep Natarajan, Peter J. Park, Rahul Satija, Fritz J. Sedlazeck, Diane D. Shao, Hui Shen, Andrew B. Stergachis, Hunter R. Underhill, Alexander E. Urban, Melissa W. VonDran, Christopher A. Walsh, Ting Wang, Tao P. Wu, Chenghang Zong, Eunjung Alice Lee, Flora M. Vaccarino & The Somatic Mosaicism across Human Tissues Network

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  • Nature Communications  ·  July 1, 2025

    Shared genetic architecture of posttraumatic stress disorder with cardiovascular imaging, risk, and diagnoses.

    Jie Shen, Wander Valentim, Eleni Friligkou, Cassie Overstreet, Karmel W. Choi, Dora Koller, Christopher J. O’Donnell, Murray B. Stein, Joel Gelernter, Posttraumatic Stress Disorder Working Group of the Psychiatric Genomics Consortium, Haitao Lv, Ling Sun, Guido J. Falcone, Renato Polimanti & Gita A. Pathak

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  • Nature Medicine  ·  June 27, 2025

    A reference model of circulating hematopoietic stem cells across the lifespan with applications to diagnostics.

    N. Furer, N. Rappoport, O. Milman, S. Tavor, A. Lifshitz, A. Bercovich, O. Ben-Kiki, A. Danin, M. Kedmi, Z. Shipony, D. Lipson, E. Meiri, G. Yanai, S. Shapira, N. Arber, S. Berdichevsky, J. Tyner, S. Joshi, D. Landau, S. Ganesan, N. Dusaj, P. Chamely, N. Kaushansky, N. Chapal-Ilani, R. Shamir, A. Tanay & L. Shlush

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