• Genetics in Medicine Open  ·  July 17, 2026

    Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in PKD1 via a de novo–common variant complex allele.

    Sangwoo T. Han, Atteeq U. Rehman, Sowmya Thirumalai Srinivasa, Alicia Lam, Michael Ficurilli, Vanessa Felice, Priya Krithivasan, Shruti Phadke, Avinash Abhyankar, Katherine Bergstrom, Jennifer A. Bassetti, Vaidehi Jobanputra

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  • Science  ·  July 16, 2026

    Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

    Peter Orchard, Thomas W Blackwell, Linda Kachuri, Peter J Castaldi, Michael H Cho, Stephanie A Christenson, Peter Durda, Stacey Gabriel, Craig P Hersh, Scott Huntsman, Seungyong Hwang, Roby Joehanes, Mari Johnson, Xingnan Li, Honghuang Lin, Ching-Ti Liu, Yongmei Liu, Angel C Y Mak, Ani W Manichaikul, David T Paik, Aabida Saferali, Joshua D Smith, Kent D Taylor, Russell P Tracy, Jiongming Wang, Mingqiang Wang, Joshua S Weinstock, Jeffrey Weiss, Heather E Wheeler, Ying Zhou, Sebastian Zöllner, Joseph C Wu, Luisa Mestroni, Sharon Graw, Matthew R G Taylor, Victor E Ortega, W Craig Johnson, Weiniu Gan, Goncalo Abecasis, Deborah A Nickerson, Namrata Gupta, Kristin Ardlie, Prescott G Woodruff, Russell P Bowler, Deborah A Meyers, Alex Reiner, Charles Kooperberg, Elad Ziv, Ramachandran S Vasan, Martin G Larson, L Adrienne Cupples, Edwin K Silverman, Stephen S Rich, Nancy Heard-Costa, Hua Tang, Jerome I Rotter, Albert V Smith, Daniel Levy; NHLBI TOPMed Consortium Multi-Omics Working Group; NHLBI TOPMed Consortium; François Aguet, Laura J Scott, Laura M Raffield, Stephen C J Parker, Namiko Abe, Laura Almasy, Seth Ament, Pramod Anugu, Paul Auer, Dimitrios Avramopoulos, Adithya Balasubramanian, R Graham Barr, Lucas Barwick, Terri Beaty, Diane Becker, Lewis Becker, Amber Beitelshees, Takis Benos, Marcos Bezerra, Joshua Bis, Jennifer Brody, Ulrich Broeckel, Jai Broome, Karen Bunting, Erin Buth, Vincent Carey, Cara Carty, Richard Casaburi, Mark Chaffin, Christy Chang, Yi-Cheng Chang, Sameer Chavan, Bo-Juen Chen, Wei-Min Chen, Seung Hoan Choi, Lee-Ming Chuang, Ren-Hua Chung, Matthew Conomos, Elaine Cornell, Carolyn Crandall, James Crapo, Jeffrey Curtis, Coleen Damcott, Sean David, Lisa de Las Fuentes, Paul de Vries, Ranjan Deka, Dawn DeMeo, Scott Devine, Huyen Dinh, Harsha Doddapaneni, Qing Duan, Ravi Duggirala, Charles Eaton, Lynette Ekunwe, Adel El Boueiz, Leslie Emery, Charles Farber, Jesse Farek, Nora Franceschini, Chris Frazar, Mao Fu, Stephanie M Fullerton, Lucinda Fulton, Shanshan Gao, Yan Gao, Margery Gass, Heather Geiger, Auyon Ghosh, Chris Gignoux, David Glahn, Stephanie Gogarten, Da-Wei Gong, Harald Goring, Daniel Grine, C Charles Gu, Yue Guan, Michael Hall, Yi Han, Daniel Harris, Ben Heavner, David Herrington, Brian Hobbs, Elliott Hong, Karin Hoth, Chao Agnes Hsiung, Jianhong Hu, Yi-Jen Hung, Haley Huston, Chii Min Hwu, Rebecca Jackson, Deepti Jain, Jill Johnsen, Rich Johnston, Kimberly Jones, Michael Kessler, Alyna Khan, Ziad Khan, Wonji Kim, John Kimoff, Greg Kinney, Holly Kramer, Christoph Lange, Ethan Lange, Cathy Laurie, Cecelia Laurie, Meryl LeBoff, Sandra Lee, Wen-Jane Lee, David Levine, Joshua Lewis, Yun Li, Xihong Lin, Simin Liu, Yu Liu, Barry Make, Alisa Manning, JoAnn Manson, Lisa Martin, Melissa Marton, Susan Mathai, Susanne May, Patrick McArdle, Merry-Lynn McDonald, Sean McFarland, Daniel McGoldrick, Caitlin McHugh, Hao Mei, James Meigs, Vipin Menon, Nancy Min, Matt Moll, Zeineen Momin, May Montasser, Josyf C Mychaleckyj, Rakhi Naik, Take Naseri, Pradeep Natarajan, Sarah C Nelson, Bonnie Neltner, Caitlin Nessner, Osuji Nkechinyere, Jeff O’Connell, Tim O’Connor, Heather Ochs-Balcom, Geoffrey Okwuonu, James Pankow, Cora Parker, Gina Peloso, Juan Manuel Peralta, Marco Perez, James Perry, Ulrike Peters, Lawrence S Phillips, Toni Pollin, Julia Powers Becker, Meher Preethi Boorgula, Bruce Psaty, Dandi Qiao, Nicholas Rafaels, Mahitha Rajendran, Laura Rasmussen-Torvik, Aakrosh Ratan, Robert Reed, Elizabeth Regan, Muagututi’a Sefuiva Reupena, Rebecca Robillard, Carolina Roselli, Ingo Ruczinski, Alexi Runnels, Pamela Russell, Kathleen Ryan, Ester Cerdeira Sabino, Shabnam Salimi, Sejal Salvi, Steven Salzberg, Kevin Sandow, Jireh Santibanez, Karen Schwander, Frank Sciurba, Frédéric Sériès, Amol Shetty, Aniket Shetty, Brian Silver, Robert Skomro, Tanja Smith, Sylvia Smoller, Beverly Snively, Adrienne M Stilp, Garrett Storm, Elizabeth Streeten, Jessica Lasky Su, Yun Ju Sung, Jody Sylvia, Adam Szpiro, Margaret Taub, Simeon Taylor, Timothy A Thornton, Machiko Threlkeld, Lesley Tinker, David Tirschwell, Hemant Tiwari, Catherine Tong, Michael Tsai, Dhananjay Vaidya, Tarik Walker, Robert Wallace, Avram Walts, Fei Fei Wang, Heming Wang, Karol Watson, Jennifer Watt, Lu-Chen Weng, Jennifer Wessel, Kayleen Williams, Carla Wilson, James Wilson, Lara Winterkorn, Quenna Wong, Baojun Wu, Huichun Xu, Lisa Yanek, Ivana Yang, Seyedeh Maryam Zekavat, Snow Xueyan Zhao, Wei Zhao, Xiaofeng Zhu.

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  • bioRxiv  ·  July 11, 2026  ·  Preprint

    Multiscale harmonization and semantic integration of biomedical data enable biological insights through immersive exploration.

    Andreas Bueckle, Chenchen Zhu, Alex Yu Hin Wong, Archibald Enninful, Yang Miao, Negin Farzad, Maria Pedersen, Courteney Mattison, Nicholas Sloan, Jason Mares, Cheng Xing, Bruce W. Herr II, Juhi Khare, Yash Ramesh Kumar, Keyur Parekh, Siddhi Chavan, Paean Luby, Ushma Patel, John W. Hickey, Gary D. Bader, Hemali Phatnani, Vilas Menon, Rong Fan, Peter Sorger, Michael Snyder, Katy Boerner

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  • bioRxiv  ·  July 10, 2026  ·  Preprint

    Isoform-level resolution in single-cell CRISPR screens reveals hidden functional consequences of gene perturbation.

    Nathanael Andrews, Josie Gleeson, Jasper Panten, Sofia Oling, Sofia Lundqvist, Tuuli Lappalainen

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  • Alzheimers Dement .  ·  July 7, 2026

    Association of sleep duration with Alzheimer’s disease and cognition.

    Filippos Anagnostakis, Cliodhna Kate O’Toole, Guray Erus, Dhivya Srinivasan, Yuhan Cui, Michail Kokkorakis, Xin Ma, Christiane Reitz, Adam M Brickman, Despina Kontos, Ajay Gupta, Sam Payabvash, Elisa E Konofagou, Grace McIlvain, Feixiong Cheng, Matthew R Baldwin, Haochang Shou, Christos Davatzikos, Susan Resnick, Junhao Wen.

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  • Genetics in Medicine  ·  July 7, 2026

    Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

    Sally Nijim , Mimi Kim , Melissa Denish , Michael V Gonzalez , Joseph Zinski , Claudine Rieubland , Dominique Braun , Elsebet Ostergaard , Amelle Shillington , Laurence Faivre , Julien Maraval , Aurore Garde , Christophe Philippe , Fréderic Tran-Mau-Them , Amy Crunk ; UCI GREGoR Site; Megan Hawley , Bert Callewaert , Maria Iascone , Anna Cereda , Cecilia Daolio , Tova Hershkovitz , Jean-Marc Good , Katharina Steindl , Tanja Frey , Anita Rauch , Alexandra Afenjar , Cyril Mignot , Jean-Madeleine de Sainte Agathe , Nicolette den Hollander , Yvonne Hilhorst-Hofstee , Saskia Koene , Gijs Santen , Emilia K Bijlsma , Sara Berger , Lakshmi Mehta , Radka Stoeva , Clara Houdayer , Paul Gueguen , Helene Faust , Sabine Specht , Annick Klabunde-Cherwon , Melik Malek Khelifa , Anke Bergmann , Carol Saunders , Magdalena Krygier , Diana Carrasco , Kay Metcalfe , Stephan J Sanders , David Y Zhang , Renae Judy , Wes Nijim , David Exposito-Alonso , Christine X Deng , Jusung Kim , Jozef Gecz , Corrado Romano , Cindy Skinner , Angie Lichty , Ellen Linebaugh , Steven A Skinner , Maria Chahrour , Tianyun Wang , Kun Xia , Hui Guo , Sien Van Daele , Gert Van Goethem , Christina Fagerberg , Jesper Graakjaer , Susanne Anders , Heike Fink , D Isum Ward , Dorothy K Grange , Alanna Strong , Petra Zwijnenburg , Meghan Towne , René G Feichtinger , Jennifer Morrison , Aditi Dagli , Jonathan Levy , Yline Capri , Rebecca C Spillman , Sarah Hart , Vandana Shashi , Boris Keren , Tjitske Kleefstra , Rolph Pfundt , Christian Gilissen , Evan E Eichler , Melanie Brugger , Michael Zech , Wendy K Chung , Maria Fasolino , Holly C Dow , Daniel J Rader , Edward S Brodkin , Maja Bucan , Eric D Marsh , Caroline Dias , David C Fajgenbaum

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  • Nature  ·  July 1, 2026

    Genome-wide association studies of infant and toddler temperament in European and multi-ancestry populations.

    Anja Hollowell, Anna Gui, Emilie Wigdor, Morgan J. Morgan, Laurie J. Hannigan, Elizabeth C. Corfield, René Pool, Susanne Bruins, Helga Ask, Christel M. Middeldorp, Beate St Pourcain, Meike Bartels, Dorret I. Boomsma, Catharina A. Hartman, Aoi Noda, Ippei Takahashi, Mami Ishikuro, Taku Obara, Shinichi Kuriyama, Mary S. Mufford, Marilyn T. Lake, Dan J. Stein, Heather J. Zar, Nadia Hoffman, Elise B. Robinson, Anders D. Børglum, Xinhe Zhang, Varun Warrier, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Tomoki Arichi, Mark H. Johnson, Frank Dudbridge, Stephan J. Sanders, Alexandra Havdahl & Angelica Ronald

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  • Nature  ·  July 1, 2026

    Single-cell DNA methylation analysis uncovers epigenetic pathways in the transformation of MDS to AML.

    Alberto Bueno-Costa, Ignacio Campillo-Marcos, Marta Casado-Peláez, Karim Yassine, Aleix Noguera-Castells, Lurdes Zamora, Blanca Xicoy, Francesc Solé, Caterina Mata, Jane Park, Saravanan Ganesan, Matteo Giovanni Della Porta, Gerardo Ferrer, Dan A. Landau & Manel Esteller

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  • bioRxiv  ·  June 29, 2026  ·  Preprint

    Serval: A modular framework for decoding imaging based spatial transcriptomics data.

    Jenkin Tsui, Naila Adam, Woongcheol Choi, Luna Y Liu, Cristina Flores, Shadi Ansari, Esther Kong, Yukta Thapliyal, Hakwoo Lee, Shahid Haider, Issac Von Riedemann, Ciara O’Flanagan, IMAXT Cancer Grand Challenges Consortium, Samuel Aparicio, Andrew Roth

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  • medRxiv  ·  June 15, 2026  ·  Preprint

    An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer’s disease.

    Anjali Das, Chirag Lakhani, Vera M Mazeeva, Towfique Raj, David A Knowles.

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  • medRxiv  ·  June 24, 2026  ·  Preprint

    Clinical care site data integration reveals heterogeneity in EHR phenotyping and healthcare utilization patterns.

    John P. Shelley, Allison M. Lake, Julia M. Sealock, Thomas E. Ueland, Josh F. Peterson, Lea K. Davis, Jonathan D. Mosley

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  • bioRxiv  ·  June 15, 2026  ·  Preprint

    Accurate detection of tumor clonality and ongoing expansion mode from genomic data.

    Yanjie Chen, Roman Jaksik, Peter Terranova, Sara El Baghdadi, Andrew Koval, Monika K. Kurpas, Simon Tavare, Marek Kimmel, Khanh N Dinh.

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  • Nature Genetics  ·  June 22, 2026

    Longitudinal changes in DNA methylation in IDH-mutant glioma fuel disease progression through altered cell state differentiation.

    Masashi Nomura, Ramya Raviram, Joshua S. Schiffman, Lillian Bussema, Vivian Lu, Noelle Wheeler, John J. Y. Lee, Yilin Fan, Mian Hua Zheng, Florian Ruiz, Husain Danish, Sorcha Kellett, Labeeba Nusrat, Ronan Chaligne, Jason T. Huse, W. K. Alfred Yung, Shota Tanaka, Nobuhito Saito, Sunit Das, Catherine Potenski, Dan A. Landau, Mario L. Suvà

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  • bioRxiv  ·  June 17, 2026  ·  Preprint

    Correcting spatial transcriptomics data affected by a prevalent transcript leakage problem across platforms, species, and tissues.

    Christina Huan Shi, Yibo Zhai, Savio Ho-Chit Chow, Liangbang Li, Chase M Carver, Marcos Garcia Teneche, Jesus Flores, Colin Kern, Peter D Adams, Bing Ren, Marissa J Schafer, Quan Zhu, Yingying Wei, Kevin Y. Yip

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  • Genetic Medicine  ·  June 12, 2026

    Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

    Saurav Guha, Indhu-Shree Rajan-Babu, Akanchha Kesari, Shreshtha Garg, Nancy C Rose, Bryce A Seifert, Honey V Reddi; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.

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  • Nature  ·  April 28, 2026

    A Foundation Model for Capturing Complexity of Menstrual Health Data.

    Robin Linzmayer, Chao Pang, Iñigo Urteaga, Gamze Gürsoy, Amanda A Shea, Virginia J Vitzthum, Noémie Elhadad

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  • Blood Cancer Discovery  ·  June 12, 2026

    Genomic features do not account for differences in multiple myeloma risk by ancestry.

    Kylee H Maclachlan, Marios Papadimitriou, Patrick Blaney, Linda B Baughn, Tala Shekarkhand, Alexandra M Poos, Bachisio Ziccheddu, Hongwei Tang, Huihuang Yan, Benjamin Diamond, Yanming Zhang, Robert Cimera, Ahmet Dogan, Dylan Gagler, Eileen Boyle, Malin Hultcrantz, Sham Mailankody, Hani Hassoun, Urvi A Shah, Carlyn Tan, Elizabeth E Brown, Lara Winterkorn, Timothy Chu, Zoe Steinsnyder, Zalman Vaksman, Faith E Davies, Neha Korde, Ola Landgren, Marc S Raab, Alexander M Lesokhin, Nicolas Robine, Niels Weinhold, Saad Z Usmani, Francesco Maura, Gareth J Morgan

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  • Cell  ·  June 11, 2026

    Charting human cellular senescence in aging and disease.

    Vidyani Suryadevara, Negin Farzad, Mingyu Yang, Ke Xu, Alexander Tsankov, Ryan C. Thompson, Nick Sloan, Hemali Phatnani, Bradley Olinger, Jason A. Mares, Anina N. Lund, Dongmei Li, Myriam Gorospe, Li Ding, Noam Beckmann, Nathan Basisty, Carlos Anerillas, the NIH SenNet consortium, Paul Robbins, Rong Fan

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  • JCI Insight  ·  June 2, 2026

    Reduced CCL/Be-specific CD4+ T cells in CCL3-deficient or peptide-MHC II CAR-T cell-treated mice.

    Michael T Falta, Masoom Raza, Caley J Nevienski, Tonya M Brunetti, Rui Fu, Rebecca M Tucker, Joseph M Gaballa, Faiz Minhajuddin, Kibrom M Alula, Alberto Dinarello, Douglas G Mack, Allison K Martin, Joseph C Onyiah, Michael Yarnell, Prashanth Francis, Terry J Fry, Lisa A Maier, Andrew P Fontenot, Charles A Dinarello, Shaikh M Atif.

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  • bioRxiv  ·  June 2, 2026  ·  Preprint

    The molecular asynchrony of single cells.

    Boshi Fu, Robert Tan, Zhenkun Cao, Xiuzhen Bai, Dongsheng Bai, Jinghui Song, Chenxu Zhu.

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