• Cell  ·  June 4, 2026

    Single-cell mapping of regulatory DNA-protein interactions.

    Wei-Yu Chi, Sang-Ho Yoon, Levan Mekerishvili, Saravanan Ganesan, Catherine Potenski, Franco Izzo, Dan Landau, Ivan Raimondi

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  • bioRxiv  ·  June 3, 2026  ·  Preprint

    Genetic and structural evidence links calcium dysregulation and ATP2B2 to neuropsychiatric illness.

    Sherif Gerges, Nikolaj Catois Straarup, Mohamed A El-Brolosy, F. Kyle Satterstrom, Nolan Kamitaki, Jiayi Yuan, Emi Ling, Raozhou Lin, Melissa Goldman, Tarjinder Singh, Jonathan S. Weissman, Sabina Berretta, Jen Qian Pan, Hilary Finucane, Charlott Stock, Poul Nissen, Steven A. McCarroll, Mark J. Daly

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  • bioRxiv  ·  May 31, 2026  ·  Preprint

    LRP2: A proteogenomics pipeline for long-read informed protein isoform analysis and discovery.

    Megan D Schertzer, Julia T Lewandowski, Emily F Watts, Will Rosenow, Madison M Mehlferber, Erin D Jeffery, Scott I Adamson, Jocelyne Bruand, Elizabeth Tseng, Yaseswini Neelamraju, Francine E Garrett-Bakelman, Egor Dolzhenko, David A Knowles, Gloria Sheynkman

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  • bioRxiv  ·  May 29, 2026  ·  Preprint

    Cell autonomous inflammation in VEXAS is mediated by cGAS-STING.

    Samuel J. Magaziner, Jason C Collins, Brecca Miller, Patrick Zheng, Amy K Wang, Jerome Hadjadj, Juan Carlos Balandran, Maria Sirenko, Maya English, James A.C. Bertlin, Rebecca Murray, Peter H Whitney, Tania J Gonzalez Robles, Deborah Rivera, Yan Wang, Duy T Tran, Zulfeqhar Syed, Valentina Baena, Timothee Lionnet, Kelly J Ruggles, Iannis Aifantis, Dan A. Landau, Achim Werner, David Beck

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  • Cell Genomics  ·  May 18, 2026

    Essential lncRNAs in the human transcriptome.

    Wen-Wei Liang, Simon J Mueller, Sydney K Hart, Hans-Hermann Wessels, Alejandro Méndez-Mancilla, Akash Sookdeo, Olivia Choi, Christina M Caragine, Alba Corman, Lu Lu, Olena Kolumba, Breanna Williams, Neville E Sanjana.

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  • medRxiv  ·  May 20, 2026  ·  Preprint

    Altered neurodevelopmental trajectories of brain structure in Tourette syndrome and Chronic Tic Disorders.

    Yin Jin, Yuxin Guo, Jonathan M. Koller, Sarah C. Grossen, Anne Uhlmann, Natalie J. Forde, Jade-Jocelyne Zouki, Renzo Torrecuso, Karsten Mueller, Juan F. Martin-Rodriguez, Pablo Franco-Rosado, Michel Grothe, Catharina Cramer, Anne Kleine Büning, Heike Eichele, Stefano Palmucci, Adriana Prato, Federica Saia, Silvia Tommasin, Giulia Conte, Katharina A. Schindlbeck, Christos Ganos, Shukti Zimmermann, Tanja Veselinovic, Yulia Worbe, Andreas Hartmann, Apostolia Topaloudi, Mary Kaka, Guangxin Chen, Qingyi Zhong, Yuqi Zhang, Natalia Szejko, Piotr Janik, Nanette M. Debes, Zeynep Tumer, Tomasz Wolańczyk, Gary A. Heiman, Hreinn Stefansson, Helga Ask, Ole Andreassen, Anders D. Børglum, Joseph D. Buxbaum, Elizabeth C. Corfield, Mark Daly, Dorothy E. Grice, David Mataix-Cols, Aarno Palotie, Christian Rück, Matthew W. Halvorsen, Lea K. Davis, James J. Crowley, Manuel Mattheisen, Dongmei Yu, Carol A. Mathews, Jeremiah M. Scharf, The members of the Tourette International TS-EUROTRAIN/TSGeneSEE, TAA Neuroimaging Consortium, Collaborative Genetics consortium, TAAICG, EMTICS, ENIGMA-TS Working Group, Dan J. Stein, Irene Neuner, Richard Musil, Francesco Cardona, Danielle Cath, Dick J. Veltman, Tim J. Silk, Alexander Munchau, Julius Verrel, Valerie C. Brandt, Tamara Hershey, Deanna J. Greene, Bradley L. Schlaggar, Jan Buitelaar, Barbara Franke, Sophia Thomopoulos, Renata Rizzo, Andrea Dietrich, Pieter J. Hoekstra, Pablo Mir, Veit Roessner, Odile A. van den Heuvel, Kirsten Mueller-Vahl, Harald Möller, Neda Jahanshad, Paul M. Thompson, Kevin J. Black, Peristera Paschou

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  • medRxiv  ·  May 13, 2026  ·  Preprint

    A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

    Anthony McGuigan, Alistair T. Pagnamenta, Laura E. Covill, Jacob Samson, Carme Camps, Yuyang Chen, Tanishi Moitra, Kartik Chundru, Emily O’Heir, Kirsten Allan, Gavin Arno, Alexander Broomfield, Martin Delatycki, Siying Lin, Michel Michaelides, Rocio Rius, Tony Roscioli, Cas Simons, Andrew Webster, Susan M. White, Louise Wilson, Stephan J. Sanders, Anne O’Donnell-Luria, Jamie M. Ellingford, Jenny C. Taylor, Nicola Whiffin.

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  • bioRxIv  ·  May 15, 2026  ·  Preprint

    Spatial transcriptomics implicates the thalamus and cortex in autism and schizophrenia.

    David M Young, Ruchira Sharma, Narjes Rohani, Chimmi Dema, Lindsay Liang, Bernie Devlin, Devanand S. Manoli, Stephan J Sanders.

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  • NPJ Aging  ·  May 12, 2026

    Aging dictates tumor-specific genomic alterations across cancer types.

    Isabella N Grabski, Jaime L Schneider, Sara Hanahan, Arvind Ravi, Justin F Gainor, Kevin M Haigis, Rafael A Irizarry, Marcia C Haigis.

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  • Nature  ·  May 13, 2026

    Sleep chart of biological ageing clocks in middle and late life.

    The MULTI Consortium, Cliodhna Kate O’Toole, Zhiyuan Song, Filippos Anagnostakis, Zhijian Yang, Ye Ella Tian, Michael R. Duggan, Chunrui Zou, Yue Leng, Yi Cai, Wenjia Bai, Cynthia H. Y. Fu, Michael S. Rafii, Paul Aisen, Gao Wang, Philip L. De Jager, Jian Zeng, Hamilton Se-Hwee Oh, Xia Zhou, Keenan A. Walker, Daniel W. Belsky, Andrew Zalesky, Eleanor M. Simonsick, Susan M. Resnick, Luigi Ferrucci, Christos Davatzikos & Junhao Wen

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  • medRxiv  ·  April 29, 2026  ·  Preprint

    The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.

    Jack Humphrey, Ali Oku, Marta Byrska-Bishop, Anna Basile, Uday S. Evani, Andre Corvelo, Alex Tokolyi, Kailash BP, Aline Real, Yebin Kim, Marielle Bond, Wayne E. Clarke, Rui Fu, Heather Geiger, Sei Chang, Tatsuhiko Naito, Beomijin Jang, Rajeeva Musunuri, Winston Dredge, Rashid Al-Abri, Benjamin N. Hoover, Dina Manaa, Jaime McClintock, Faith P. Singh, Maria H. Pedersen, Alexi Runnels, Nadia Propp, Samantha Fennessey, Hong-Hee Won, Michael C. Zody, Giuseppe Narzisi, Nicolas Robine, Tuuli Lappalainen, Delphine Fagegaltier, Gamze Gursoy, David A. Knowles, Towfique Raj, NYGC ALS Consortium, Matthew B. Harms, Hemali Phatnani.

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  • bioRxiv  ·  May 1, 2026  ·  Preprint

    Comprehensive Molecular Characterization of High-Grade Endometrial Cancer in an Ancestrally-Diverse Cohort.

    Marina Frimer, Devin Gee, Zoe R Goldstein, WillIam F Hooper, Kyriaki Founta, Astrid Deschenes, Heather Geiger, Pascal Belleau, Melissa Kramer, Brian Yueh, Tim Chu, Ali Oku, Zalman Vaksman, Valentina Grether, Zoe Steinsnyder, Andrew L Araneo, Charlie Chung, Arisa Kapedani, Aaron Nizam, Onur Eskiocak, Kadir Ozler, Gary L Goldberg, Alexander Krasnitz, W R McCombie, Mali Barbi, Lara Winterkorn, Nicolas Robine, Semir Beyaz, Nyasha Chambwe.

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  • bioRxiv  ·  April 27, 2026  ·  Preprint

    Single-nucleus multiome sequencing identifies candidate regulators of mouse gastric epithelial homeostasis.

    Maithê Rocha Monteiro de Barros, Katharina Bosch, Salima Soualhi, Shirin Issa Bhaloo, Thomas Chu, Tanya Hemrajani, Jin Cho, Kurtay Ozuner, Rui Fu, Heather Geiger, Nicolas Robine, Jade E.B. Carter, Silas Maniatis, Sandra Ryeom, Simon Tavaré, Karol Nowicki-Osuch

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  • bioRxiv  ·  April 21, 2026  ·  Preprint

    A Patient-derived Organoid Platform for Uterine Carcinosarcoma that Emulates Disease Characteristics.

    Santhilal Subhash, Marie-Thérèse Bammert, Brian Yueh, Kadir A Ozler, Timothy Chu, Melissa Kramer, Pascal Belleau, Astrid Deschênes, Onur Eskiocak, Charlie Chung, Ali Oku, Mali Barbi, Aybuke Alici, Megan Gorman, Arielle Katcher, Aaron Nizam, Ariel Kredentser, Divya Bhana, Jonathan Werner, Nicolas Robine, Marina Frimer, Gary L Goldberg, Semir Beyaz

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  • bioRxiv  ·  April 21, 2026  ·  Preprint

    A Single-Cell Atlas of Uterine Carcinosarcoma from Diverse Ancestries.

    Santhilal Subhash, Marie-Thérèse Bammert, Brian Yueh, Timothy Chu, Mali Barbi, Aybuke Alici, Onur Eskiocak, Kadir A Ozler, Aaron Nizam, Arielle Katcher, Charlie Chung, Vyom Shah, Elif Ozcelik, Nicolas Robine, Marina Frimer, Gary L Goldberg, Semir Beyaz.

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  • Nature Genetics  ·  April 23, 2026

    Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.

    Loes M. E. Moolhuijsen, Jia Zhu, Benjamin H. Mullin, Natàlia Pujol-Gualdo, Ky’Era V. Actkins, Jasmine A. Mack, Hridya Rao, Bhavi Trivedi, Katherine A. Kentistou, Yajie Zhao, David Westergaard, Jaakko S. Tyrmi, Gudmar Thorleifsson, Yanfei Zhang, Laura Wittemans, Amber DeVries, Kelly Brewer, Ryan Sisk, Rebecca Danning, Michael H. Preuss, Michelle R. Jones, Katherine S. Ruth, Marianne Andersen, Ricardo Azziz, Karina Banasik, Michael Boehnke, Linda Broer, Søren Brunak, Yee-Ming Chan, Daniel I. Chasman, Mark Daly, David A. Ehrmann, Bart C. Fauser, Lars G. Fritsche, M. Geoffrey Hayes, Chunyan He, Hongyan Huang, Irina Kowalska, Peter Kraft, Richard S. Legro, Nan Lin, Ruth J. Loos, Yvonne V. Louwers, Reedik Magi, Mark I. McCarthy, Laure Morin-Papunen, Jean V. Morrison, Cynthia Morton, Girish N. Nadkarni, Benjamin M. Neale, Henriette Svarre Nielsen, Mette Nyegaard, Sisse R. Ostrowski, Ole B. V. Pedersen, Erik Sørensen, Christina Mikkelsen, Christian Erikstrup, Kathrine A. Kaspersen, Mie T. Bruun, Bitten Aagaard, Henrik Ullum, Barbara Obermayer-Pietsch, Aarno Palotie, Mary P. Reeve, Andres Salumets, Richa Saxena, Timothy D. Spector, Bronwyn G. A. Stuckey, Unnur Thorsteinsdottir, André G. Uitterlinden, Margrit Urbanek, Sebastian Zöllner, Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team, David A. van Heel, Joel N. Hirschhorn, Kari Stefansson, John R. B. Perry, Unnur Styrkarsdottir, Scott G. Wilson, Terhi Piltonen, Triin Laisk, Marjo-Riitta Jarvelin, Kharis Burns, Anne E. Justice, Hannele Laivuori, Ken K. Ong, Mark O. Goodarzi, Lea K. Davis, Andrea Dunaif, Cecilia M. Lindgren, Joop S. E. Laven, Stephen Franks, Jenny A. Visser, Corrine K. Welt, Tugce Karaderi & Felix R. Day

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  • Cell  ·  April 21, 2026

    Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states.

    August Yue Huang, Zinan Zhou, Maya Talukdar, Liz Enyenihi, Michael B Miller, Brian Chhouk, Ila Rosen, Mengyue Zheng, Minye Zhou, Averill Yang, Edward Stronge, Madel Durens, Minh Nguyen, Jaejoon Choi, Boxun Zhao, Sattar Khoshkhoo, Junho Kim, Rebecca Andersen, Zheming An, Yuchen Cheng, Javier Ganz, Levan Mekerishvili, Kyle J Travaglini, Mariano I Gabitto, Rebecca D Hodge, Eitan S Kaplan, Julia A Belk, Dan Landau, Ed S Lein, Philip L De Jager, David A Bennett, Samuele G Marro, Eirini P Papapetrou, Eunjung Alice Lee, Christopher A Walsh

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  • Nature Methods  ·  April 17, 2026

    Orthrus: toward evolutionary and functional RNA foundation models.

    Philip Fradkin, Ruian Ian Shi, Taykhoom Dalal, Keren Isaev, Brendan J Frey, Leo J Lee, Quaid Morris, Bo Wang.

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  • HemaSphere  ·  April 16, 2026

    Whole-genome sequencing of cell-free DNA for assessment of minimal residual disease in high-risk smoldering multiple myeloma.

    Chrissy Baker, Elizabeth Hill, Dickran Kazandjian, Marios Papadimitriou, Michael Durante, Abhishek Pandey, Bachisio Ziccheddu, Tomas Jelinek, David Coffey, Brian Walker, Ryan Young, Kylee Maclachlan, Neha Korde, Nickoli Parkinson, Zoe R. Goldstein, Alexi Runnels, William F. Hooper, Dan Landau, Nicolas Robine, Francesco Maura, Ola Landgren, Benjamin Diamond

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