• Nature Human Behaviour

    Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry.

    Anna Gui, Anja Hollowell, Emilie M. Wigdor, Morgan J. Morgan, Laurie J. Hannigan, Elizabeth C. Corfield, Veronika Odintsova, Jouke-Jan Hottenga, Andrew Wong, René Pool, Harriet Cullen, Siân Wilson, Varun Warrier, Espen M. Eilertsen, Ole A. Andreassen, Christel M. Middeldorp, Beate St Pourcain, Meike Bartels, Dorret I. Boomsma, Catharina A. Hartman, Elise B. Robinson, Tomoki Arichi, Anthony D. Edwards, Mark H. Johnson, Frank Dudbridge, Stephan J. Sanders, Alexandra Havdahl & Angelica Ronald

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  • Nature  ·  May 7, 2025

    Dopamine D1–D2 signalling in hippocampus arbitrates approach and avoidance.

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  • biorXiv  ·  May 5, 2025  ·  Preprint

    CRISPRi perturbation screens and eQTLs provide complementary and distinct insights into GWAS target genes.

    Samuel Ghatan, Jasper Panten, Winona Oliveros, Neville E Sanjana, John A Morris, Tuuli Lappalainen

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  • bioRxiv  ·  May 2, 2025

    Spatial transcriptomics and genetically implicated genes identify putative causal tissue structures for complex traits.

    Linda Kvastad, Aaron Kollotzek, Rasool Saghaleyni, Chih-Fan Chang, Tianze Cao, Tuuli Lappalainen

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  • Brachytherapy  ·  April 28, 2025

    3D HDR brachytherapy for cervical cancer in LMIC: Audit of a single institution experience in Lagos, Nigeria.

    Adedayo Joseph, Chika Nwachukwu, Bolanle Adegboyega, Omolola Salako, Temitope Andero, Adewumi Alabi, Azeezat Ajose, Samuel Adeneye, Nusirat Adedewe, Abdallah Kotkat, Aishat Oladipo, Omoruyi Credit Irabor, Muhammad Habeebu, David Puthoff, Adedayo Onitilo, Wilfred Ngwa, Onyinye Balogun

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  • bioRxiv  ·  April 22, 2025  ·  Preprint

    Oncogenic mutations disrupt lineage differentiation via epigenetic perturbations.

    Lingjun Meng, Sylvia Katina Plevritis, Alice Yu, Jodie Meng, Yongjin Yoo, Justyna Janas, David A Knowles, Huanwei Huang, Katie Marie Schaukowitch

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  • bioRxiv  ·  April 19, 2025  ·  Preprint

    Genome-wide mapping of mesoscale neuronal RNA organization and condensation.

    Lindsay A. Becker, Sofia A. Quinodoz, Troy J. Comi, Ofer Kimchi, David A. Knowles, Clifford P. Brangwynne

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  • medRxiv  ·  April 16, 2025  ·  Preprint

    Convex approaches to isolate the shared and distinct genetic structures of subphenotypes in heterogeneous complex traits.

    Saikat Banerjee, Shane O’Connell, Sarah Colbert, Niamh Mullins, David A Knowles

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  • Genome Medicine  ·  April 14, 2025

    Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

    Alexandra C. Martin-Geary, Alexander J.M. Blakes, Ruebena Dawes, Scott D. Findlay, Jenny Lord, Shan Dong, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N. D’Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G.E.L. DeGoede, Emily R. Anderson, Toby Candler, Helen Firth, Christopher B. Burge, Stephan J. Sanders, Jamie Ellingford, Diana Baralle, Siddharth Banka & Nicola Whiffin

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  • Nucleic Acids Research  ·  April 14, 2025

    pC-SAC: A method for high-resolution 3D genome reconstruction from low-resolution Hi-C data.

    J Carlos Angel, Narjis El Amraoui, Gamze Gürsoy

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  • Cancer Cell  ·  April 14, 2025

    Precision oncology and genetic ancestry: The science behind population-based cancer disparities.

    Melissa B. Davis, Rachel Martini

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  • Nature Methods  ·  April 11, 2025

    Error-corrected flow-based sequencing at whole genome scale and its application to circulating cell-free DNA profiling.

    Alexandre Pellan Cheng, Adam J. Widman, Anushri Arora, Itai Rusinek, Aaron Sossin, Srinivas Rajagopalan, Nicholas Midler,William F. Hooper, Rebecca M. Murray, Daniel Halmos, Theophile Langanay, Hoyin Chu, Giorgio Inghirami, Catherine Potenski, Soren Germer, Melissa Marton, Dina Manaa, Adrienne Helland, Rob Furatero, Jaime McClintock, Lara Winterkorn, Zoe Steinsnyder, Yohyoh Wang, Asrar I. Alimohamed, Murtaza S. Malbari, Ashish Saxena, Margaret K. Callahan, Dennie T. Frederick, Lavinia Spain, Michael Sigouros, Jyothi Manohar, Abigail King, David Wilkes, John Otilano, Olivier Elemento, Juan Miguel Mosquera, Ariel Jaimovich, Doron Lipson, Samra Turajlic, Michael C. Zody, Nasser K. Altorki, Jedd D. Wolchok, Michael A. Postow, Nicolas Robine, Bishoy M. Faltas, Genevieve Boland, Dan A. Landau

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  • Science  ·  April 11, 2025

    The genetic architecture of and evolutionary constraints on the human pelvic form.

    Liaoyi Xu, Eucharist Kun, Devansh Pandey, Joyce Y. Wang, Marianne F. Brasil, Tarjinder Singh, and Vagheesh M. Narasimhan

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  • Nature  ·  April 9, 2025

    Phenotypic complexities of rare heterozygous neurexin-1 deletions.

    Michael B. Fernando, Yu Fan, Yanchun Zhang, Alex Tokolyi, Aleta N. Murphy, Sarah Kammourh, P. J. Michael Deans, Sadaf Ghorbani, Ryan Onatzevitch, Adriana Pero, Christopher Padilla, Sarah E. Williams, Erin K. Flaherty, Iya A. Prytkova, Lei Cao, David A. Knowles, Gang Fang, Paul A. Slesinger & Kristen J. Brennand

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  • Nature Biotechnology  ·  April 4, 2025

    Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.

    Ayse G. Keskus, Asher Bryant, Tanveer Ahmad, Byunggil Yoo, Sergey Aganezov, Anton Goretsky, Ataberk Donmez, Lisa A. Lansdon, Isabel Rodriguez, Jimin Park, Yuelin Liu, Xiwen Cui, Joshua Gardner, Brandy McNulty, Samuel Sacco, Jyoti Shetty, Yongmei Zhao, Bao Tran, Giuseppe Narzisi, Adrienne Helland, Daniel E. Cook, Pi-Chuan Chang, Alexey Kolesnikov, Andrew Carroll, Erin K. Molloy, Chengpeng Bi, Adam Walter, Margaret Gibson, Irina Pushel, Erin Guest, Tomi Pastinen, Kishwar Shafin, Karen H. Miga, Salem Malikic, Chi-Ping Day, Nicolas Robine, Cenk Sahinalp, Michael Dean, Midhat S. Farooqi, Benedict Paten & Mikhail Kolmogorov

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  • Nature Medicine  ·  April 4, 2025

    Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

    Anders Kämpe, Sanna Gudmundsson, Colum P. Walsh, Kerstin Lindblad-Toh, Åsa Johansson, Anna Clareborn, Adam Ameur, Anders Edsjö, Thoas Fioretos, Hans Ehrencrona, Daniel Eriksson, Tove Fall, Paul W. Franks, Ulf Gyllensten, Margareta Haag, Anna Hagwall, Maria Johansson Soller, Janne Lehtiö, Yi Lu, Patrik K. E. Magnusson, Erik Melén, Beatrice Melin, Karl Michaëlsson, Ann Nordgren, Jessica Nordlund, Lao H. Saal, Jochen M. Schwenk, Per Sikora, Johan Sundström, Fulya Taylan, Bethany Van Guelpen, Mia Wadelius, Anna Wedell, Valtteri Wirta, Päivi Östling, Bo Jacobsson, Tobias Sjöblom, Bengt Persson, Richard Rosenquist, Anna Lindstrand & Tuuli Lappalainen

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  • Cell Reports  ·  April 3, 2025

    Single-cell 5-hydroxymethylcytosine landscapes of mouse early embryos at single-base resolution

    Dongsheng Bai, Jinmin Yang, Xiaohui Xue, Yun Gao, Yan Wang, Mengge Cui, Bo He, Hu Zeng, Huifen Xiang, Zijian Guo, Lan Zhu, Juan Gao, Chenxu Zhu, Fuchou Tang, Chengqi Yi.

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  • NPJ Precision Oncology  ·  March 28, 2025

    A complex phylogeny of lineage plasticity in metastatic castration resistant prostate cancer.

    Jones T. Nauseef, Timothy R. Chu, William F. Hooper, Alicia Alonso, Ali Oku, Heather Geiger, Zoe R. Goldstein, Minita Shah, Michael Sigouros, Jyothi Manohar, Zoe Steinsnyder, Lara Winterkorn, Brian D. Robinson, Andrea Sboner, Himisha Beltran, Olivier Elemento, Iman Hajirasouliha, Marcin Imieliński, David M. Nanus, Scott T. Tagawa, Nicolas Robine & Juan Miguel Mosquera

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  • American Society of Human Genetics  ·  March 26, 2025

    Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.

    David Cheerie, Margaret M Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy Verran, Emma Sherrill, Stefanie Leonard, Stephan J Sanders, Emily Blake, Nour Elkhateeb, Aastha Gandhi, Nicole S Y Liang, Jack T Morgan, Anna Verwillow, Jan Verheijen, Andrew Giles, Sean Williams, Maya Chopra, Laura Croft, Hormos Salimi Dafsari, Alice E Davidson, Jennifer Friedman, Anne Gregor, Bushra Haque, Rosan Lechner, Kylie-Ann Montgomery, Mina Ryten, Emil Schober, Gabriele Siegel, Patricia J Sullivan, Ella F Whittle, Bianca Zardetto, Timothy W Yu, Matthis Synofzik, Annemieke Aartsma-Rus, Gregory Costain, Marlen C Lauffer

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  • Nature Methods  ·  March 24, 2025

    Single-cell parallel analysis of DNA damage and transcriptome reveals selective genome vulnerability.

    Dongsheng Bai, Zhenkun Cao, Nivedita Attada, Jinghui Song & Chenxu Zhu

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  • bioRxiv  ·  March 20, 2025  ·  Preprint

    Ontogeny Dictates Oncogenic Potential, Lineage Hierarchy, and Therapy Response in Pediatric Leukemia.

    Ke Wang, Shayan Saniei, Nikita Poddar, Subrina Autar, Saul Carcamo, Meghana Sreenath, Jack H Peplinski, Rhonda E Ries, Isabella G Martinez, Clifford Chao, Anna Huo-Chang Mei, Noshin Rahman, Levan Mekerishvili, Miguel Quijada-Alamo, Grace Freed, Mimi Zhang, Katherine Lachman, Zayna Diaz, Manuel M Gonzalez, Jing Zhang, Giang Pham, Dan Filipescu, Mirela Berisa, Tommaso Balestra, Julie A Reisz, Angelo D’Alessandro, Daniel J Puleston, Emily Bernstein, Jerry E Chipuk, Mark Wunderlich, Sarah K Tasian, Bridget K Marcellino, Ian A Glass, BDRL, Christopher M Sturgeon, Dan A Landau, Zhihong Chen, Eirini P Papapetrou, Franco Izzo, Soheil Meshinchi, Dan Hasson, Elvin Wagenblast

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