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Towards trustworthiness of precision medicine research for people with disabilities Nat. Genet. (IF 31.7) Pub Date : 2025-06-02
Alejandra Aguirre, Sandra Soo-Jin Lee, Shawneequa Callier, Paul Spicer, Maya SabatelloPeople with disabilities are under-represented in general (non-disability-specific) precision medicine research (PMR), limiting access to its benefits. We examine key reasons for this, focusing on the role of (dis)trust, and identify areas for further inquiry to guide researchers and enhance PMR’s trustworthiness for people with disabilities.
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KDM4C inhibition blocks tumor growth in basal breast cancer by promoting cathepsin L-mediated histone H3 cleavage Nat. Genet. (IF 31.7) Pub Date : 2025-06-02
Zheqi Li, Guillermo Peluffo, Laura E. Stevens, Xintao Qiu, Marco Seehawer, Amatullah Tawawalla, Xiao-Yun Huang, Shawn B. Egri, Shaunak Raval, Maeve McFadden, Clive S. D’Santos, Eva Papachristou, Natalie L. Kingston, Jun Nishida, Kyle E. Evans, Ji-Heui Seo, Kendell Clement, Daniel Temko, Muhammad Ekram, Rong Li, Matthew G. Rees, Melissa M. Ronan, Jennifer A. Roth, Anton Simeonov, Stephen C. Kales, Ganesha -
Longitudinal and multisite sampling reveals mutational and copy number evolution in tumors during metastatic dissemination Nat. Genet. (IF 31.7) Pub Date : 2025-06-02
Karena Zhao, Joris Vos, Stanley Lam, Lillian A. Boe, Daniel Muldoon, Catherine Y. Han, Cristina Valero, Mark Lee, Conall Fitzgerald, Andrew S. Lee, Manu Prasad, Swati Jain, Xinzhu Deng, Timothy A. Chan, Michael F. Berger, Chaitanya Bandlamudi, Xi Kathy Zhou, Luc G. T. Morris -
Engineering next-generation microfluidic technologies for single-cell phenomics Nat. Genet. (IF 31.7) Pub Date : 2025-06-02
Camille L. G. Lambert, Guido van Mierlo, Johannes J. Bues, Orane J. Guillaume-Gentil, Bart Deplancke -
Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters Nat. Genet. (IF 31.7) Pub Date : 2025-06-02
David Gremmelspacher, Johannes Gawron, Barbara M. Szczerba, Katharina Jahn, Francesc Castro-Giner, Jack Kuipers, Jochen Singer, Francesco Marass, Ana Gvozdenovic, Selina Budinjas, Heike Pueschel, Cyrill A. Rentsch, Alfred Zippelius, Viola Heinzelmann-Schwarz, Christian Kurzeder, Walter Paul Weber, Christoph Rochlitz, Marcus Vetter, Niko Beerenwinkel, Nicola Aceto -
A simple genomic score to predict progression of multiple myeloma Nat. Genet. (IF 31.7) Pub Date : 2025-05-30
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Realizing the promise of genome-wide association studies for effector gene prediction Nat. Genet. (IF 31.7) Pub Date : 2025-05-29
Maria C. Costanzo, Laura W. Harris, Yue Ji, Aoife McMahon, Noël P. Burtt, Jason Flannick -
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes Nat. Genet. (IF 31.7) Pub Date : 2025-05-29
Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones, Meena Balasubramanian, Jennifer Campbell, Nora Shannon, Jungmin Choi, Juhyeon Hong, David Hunt, Anna de Burca, Soo Yeon Kim, Taekeun Kim, Seungbok Lee, Melody Redman, Rocio Rius, Cas Simons, Tiong Yang Tan, Jamie Ellingford, Raymond T. O’Keefe, Jong Hee Chae, Siddharth Banka -
Author Correction: Distinct dynamics and functions of H2AK119ub1 and H3K27me3 in mouse preimplantation embryos Nat. Genet. (IF 31.7) Pub Date : 2025-05-28
Zhiyuan Chen, Mohamed Nadhir Djekidel, Yi Zhang -
Genome synteny reveals hidden enhancer conservation Nat. Genet. (IF 31.7) Pub Date : 2025-05-27
Alex de Mendoza -
Conservation of regulatory elements with highly diverged sequences across large evolutionary distances Nat. Genet. (IF 31.7) Pub Date : 2025-05-27
Mai H. Q. Phan, Tobias Zehnder, Fiona Puntieri, Andreas Magg, Blanka Majchrzycka, Milan Antonović, Hannah Wieler, Bai-Wei Lo, Damir Baranasic, Boris Lenhard, Ferenc Müller, Martin Vingron, Daniel M. Ibrahim -
Base editing as a therapeutic strategy for somatic repeat expansion diseases Nat. Genet. (IF 31.7) Pub Date : 2025-05-26
Krishanu Saha -
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice Nat. Genet. (IF 31.7) Pub Date : 2025-05-26
Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, Y. Allen Tao, Liam G. Fearnley, Melanie Bahlo, Heidi L. Rehm, Jun Xie, Guangping Gao, Ricardo Mouro Pinto, David R. Liu -
Genome-wide association study of long COVID Nat. Genet. (IF 31.7) Pub Date : 2025-05-21
Vilma Lammi, Tomoko Nakanishi, Samuel E. Jones, Shea J. Andrews, Juha Karjalainen, Beatriz Cortés, Heath E. O’Brien, Ana Ochoa-Guzman, Brian E. Fulton-Howard, Martin Broberg, Hele H. Haapaniemi, Masahiro Kanai, Matti Pirinen, Axel Schmidt, Ruth E. Mitchell, Abdou Mousas, Massimo Mangino, Alicia Huerta-Chagoya, Nasa Sinnott-Armstrong, Elizabeth T. Cirulli, Marc Vaudel, Alex S. F. Kwong, Amit K. Maiti -
Genomic landscape of multiple myeloma and its precursor conditions Nat. Genet. (IF 31.7) Pub Date : 2025-05-21
Jean-Baptiste Alberge, Ankit K. Dutta, Andrea Poletti, Tim H. H. Coorens, Elizabeth D. Lightbody, Rosa Toenges, Xavi Loinaz, Sofia Wallin, Andrew Dunford, Oliver Priebe, Johnathan Dagan, Cody J. Boehner, Erica Horowitz, Nang K. Su, Hadley Barr, Laura Hevenor, Katherine Towle, Rashmika Beesam, Jenna B. Beckwith, Jacqueline Perry, David M. Cordas dos Santos, Luca Bertamini, Patricia T. Greipp, Kirsten -
The contribution of gametic phase disequilibrium to the heritability of complex traits Nat. Genet. (IF 31.7) Pub Date : 2025-05-19
Yuanxiang Zhang, Saori Sakaue, Sam Morris, Mariaelisa Graff, Kenichi Yamamoto, Zhengming Chen, Liming Li, Matthew C. Keller, Michael E. Goddard, Robin G. Walters, Yukinori Okada, Peter M. Visscher, Loic Yengo -
APOBEC3 mutagenesis drives therapy resistance in breast cancer Nat. Genet. (IF 31.7) Pub Date : 2025-05-16
Avantika Gupta, Andrea Gazzo, Pier Selenica, Anton Safonov, Fresia Pareja, Edaise M. da Silva, David N. Brown, Hong Shao, Yingjie Zhu, Juber Patel, Juan Blanco-Heredia, Bojana Stefanovska, Michael A. Carpenter, Yanjun Chen, Isabella Vegas, Xin Pei, Denise Frosina, Achim A. Jungbluth, Marc Ladanyi, Giuseppe Curigliano, Britta Weigelt, Nadeem Riaz, Simon N. Powell, Pedram Razavi, Reuben S. Harris, Jorge -
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Nat. Genet. (IF 31.7) Pub Date : 2025-05-16
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kevin Uguen, Konrad Platzer, Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler, Tania Attie-Bitach -
Preventing polyglutamine assembly Nat. Genet. (IF 31.7) Pub Date : 2025-05-14
Kyle VoganHuntington’s disease belongs to a class of repeat expansion disorders whose pathology is marked by the expression of toxic polyglutamine-containing proteins that assemble into insoluble protein aggregates. To study factors that influence the solubility of native polyglutamine-containing proteins, Saad et al. focused on FOXP2, a transcription factor harboring a stretch of 40 consecutive glutamines.
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Nanoscale-folding of mitotic chromosomes Nat. Genet. (IF 31.7) Pub Date : 2025-05-14
Petra GrossThe mechanisms underlying the extreme folding and contraction of genomic DNA into mitotic chromosomes remain incompletely understood. To address this, Jan Ellenberg and colleagues applied a DNA-tracing approach previously established for interphase cells that is based on fitting of sequentially resolved DNA fluorescence in situ hybridization (FISH) signals, using a FISH probe library they designed
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A systematic assessment of transcription factor function Nat. Genet. (IF 31.7) Pub Date : 2025-05-14
Chiara AnaniaIn eukaryotes, transcription factors (TFs) are known to regulate transcription by binding to the enhancers and promoters of target genes. Despite extensive research on this topic, numerous questions about TF specificity, cooperativity and function remain unanswered. To address some of these in a systematic way, Mahendrawada et al. used yeast as a model organism, owing to its relatively small number
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Complete genomes of six ape species Nat. Genet. (IF 31.7) Pub Date : 2025-05-14
Wei LiLiving ape species are close evolutionary relatives of humans and their genomes are essential for human genomic and evolutionary studies. Yoo et al. generated complete genome assemblies of six ape species: chimpanzee (Pan troglodytes), bonobo (Pan paniscus), gorilla (Gorilla gorilla), Bornean orangutan (Pongo pygmaeus), Sumatran orangutan (Pongo abelii) and siamang (Symphalangus syndactylus). For diploid
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Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder Nat. Genet. (IF 31.7) Pub Date : 2025-05-13
Nora I. Strom, Zachary F. Gerring, Marco Galimberti, Dongmei Yu, Matthew W. Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M. Sealock, Tim Bigdeli, Jonathan R. Coleman, Behrang Mahjani, Jackson G. Thorp, Katharina Bey, Christie L. Burton, Jurjen J. Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D. Askland, Julia Bäckman, Nerisa Banaj, Cristina Barlassina, Judith Becker -
An integrated transcriptomic cell atlas of human endoderm-derived organoids Nat. Genet. (IF 31.7) Pub Date : 2025-05-12
Quan Xu, Lennard Halle, Soroor Hediyeh-zadeh, Merel Kuijs, Rya Riedweg, Umut Kilik, Timothy Recaldin, Qianhui Yu, Isabell Rall, Tristan Frum, Lukas Adam, Shrey Parikh, Raphael Kfuri-Rubens, Manuel Gander, Dominik Klein, Fabiola Curion, Zhisong He, Jonas Simon Fleck, Koen Oost, Maurice Kahnwald, Silvia Barbiero, Olga Mitrofanova, Grzegorz Jerzy Maciag, Kim B. Jensen, Matthias Lutolf, Prisca Liberali -
Three-dimensional genome landscape of primary human cancers Nat. Genet. (IF 31.7) Pub Date : 2025-05-12
Kathryn E. Yost, Yanding Zhao, King L. Hung, Kaiyuan Zhu, Duo Xu, M. Ryan Corces, Shadi Shams, Bryan H. Louie, Shahab Sarmashghi, Laksshman Sundaram, Jens Luebeck, Stanley Clarke, Ashley S. Doane, Jeffrey M. Granja, Hani Choudhry, Marcin Imieliński, Andrew D. Cherniack, Ekta Khurana, Vineet Bafna, Ina Felau, Jean C. Zenklusen, Peter W. Laird, Christina Curtis, William J. Greenleaf, Howard Y. Chang -
Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics Nat. Genet. (IF 31.7) Pub Date : 2025-05-09
Avishay Spitzer, Kevin C. Johnson, Masashi Nomura, Luciano Garofano, Djamel Nehar-belaid, Noam Galili Darnell, Alissa C. Greenwald, Lillian Bussema, Young Taek Oh, Frederick S. Varn, Fulvio D’Angelo, Simon Gritsch, Kevin J. Anderson, Simona Migliozzi, L. Nicolas Gonzalez Castro, Tamrin Chowdhury, Nicolas Robine, Catherine Reeves, Jong Bae Park, Anuja Lipsa, Frank Hertel, Anna Golebiewska, Simone P -
The multilayered transcriptional architecture of glioblastoma ecosystems Nat. Genet. (IF 31.7) Pub Date : 2025-05-09
Masashi Nomura, Avishay Spitzer, Kevin C. Johnson, Luciano Garofano, Djamel Nehar-belaid, Noam Galili Darnell, Alissa C. Greenwald, Lillian Bussema, Young Taek Oh, Frederick S. Varn, Fulvio D’Angelo, Simon Gritsch, Kevin J. Anderson, Simona Migliozzi, L. Nicolas Gonzalez Castro, Tamrin ChowdhFury, Nicolas Robine, Catherine Reeves, Jong Bae Park, Anuja Lipsa, Frank Hertel, Anna Golebiewska, Simone P -
Author Correction: Mapping genetic diversity with the GenomeIndia project Nat. Genet. (IF 31.7) Pub Date : 2025-05-08
Chandrika Bhattacharyya, Krithika Subramanian, Bharathram Uppili, Nidhan K. Biswas, Shweta Ramdas, Karthik Bharadwaj Tallapaka, Prathima Arvind, Khader Valli Rupanagudi, Arindam Maitra, Tulasi Nagabandi, Tiyasha De, Kuldeep Singh, Praveen Sharma, Nanaocha Sharma, Sunil K. Raghav, Punit Prasad, E. V. Soniya, Abdul Jaleel, Shijulal Nelson Sathi, Madhvi Joshi, Chaitanya Joshi, Mayurika Lahiri, SantoshCorrection to: Nature Genetics https://doi.org/10.1038/s41588-025-02153-x, published online 8 April 2025.
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Toward clinical long-read genome sequencing for rare diseases Nat. Genet. (IF 31.7) Pub Date : 2025-05-07
Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, Anna Lindstrand -
Middle Eastern genomes: new references for disease and population diversity studies Nat. Genet. (IF 31.7) Pub Date : 2025-05-05
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Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery Nat. Genet. (IF 31.7) Pub Date : 2025-05-05
Mohammadmersad Ghorbani, Shabir Moosa, Zenab Siddig, Radi Farhad, Haroon Naeem, William T. Harvey, Francesco Kumara Mastrorosa, Katherine M. Munson, Rozaimi Mohamad Razali, Elbay Aliyev, Ilhame Diboun, Rawan Abouelhassan, Melissa Tauro, Sondoss Hassan, Rebecca Mathew, Muna Al Hashmi, Lisa S. Mathew, Kun Wang, Abdul Rahman Salhab, Fazulur Rehaman Vempalli, Ahmed El Khouly, Iman Alazwani, Sara Tomei -
Genetic insights into infertility from large-scale analyses Nat. Genet. (IF 31.7) Pub Date : 2025-04-30
Katherine S. Ruth -
Quantifying reproducible multivariate differential expression in genetic perturbation screens Nat. Genet. (IF 31.7) Pub Date : 2025-04-30
Stefan Peidli -
Insights into the evolution and genetic diversity of the Malus genus from pan-genome analysis Nat. Genet. (IF 31.7) Pub Date : 2025-04-29
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Pangenome analysis reveals structural variation associated with seed size and weight traits in peanut Nat. Genet. (IF 31.7) Pub Date : 2025-04-28
Kunkun Zhao, Hongzhang Xue, Guowei Li, Annapurna Chitikineni, Yi Fan, Zenghui Cao, Xiaorui Dong, Huimin Lu, Kai Zhao, Lin Zhang, Ding Qiu, Rui Ren, Fangping Gong, Zhongfeng Li, Xingli Ma, Shubo Wan, Rajeev K. Varshney, Chaochun Wei, Dongmei Yin -
Oryza genome evolution through a tetraploid lens Nat. Genet. (IF 31.7) Pub Date : 2025-04-28
Alice Fornasiero, Tao Feng, Noor Al-Bader, Aseel Alsantely, Saule Mussurova, Nam V. Hoang, Gopal Misra, Yong Zhou, Leonardo Fabbian, Nahed Mohammed, Luis Rivera Serna, Manjula Thimma, Victor Llaca, Praveena Parakkal, David Kudrna, Dario Copetti, Shanmugam Rajasekar, Seunghee Lee, Jayson Talag, Chandler Sobel-Sorenson, Marie-Christine Carpentier, Olivier Panaud, Kenneth L. McNally, Jianwei Zhang, Andrea -
A plant dual-kinase protein traps a pathogen effector to trigger immunity Nat. Genet. (IF 31.7) Pub Date : 2025-04-23
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Pan-genomic analysis highlights genes associated with agronomic traits and enhances genomics-assisted breeding in alfalfa Nat. Genet. (IF 31.7) Pub Date : 2025-04-23
Fei He, Shuai Chen, Yangyang Zhang, Kun Chai, Qing Zhang, Weilong Kong, Shenyang Qu, Lin Chen, Fan Zhang, Mingna Li, Xue Wang, Huigang Lv, Tiejun Zhang, Xiaofan He, Xiao Li, Yajing Li, Xianyang Li, Xueqian Jiang, Ming Xu, Bilig Sod, Junmei Kang, Xingtan Zhang, Ruicai Long, Qingchuan Yang -
Multi-omic and spatial analysis of mouse kidneys highlights sex-specific differences in gene regulation across the lifespan Nat. Genet. (IF 31.7) Pub Date : 2025-04-21
Siqi Chen, Ruiyang Liu, Chia-Kuei Mo, Michael C. Wendl, Andrew Houston, Preet Lal, Yanyan Zhao, Wagma Caravan, Andrew T. Shinkle, Atieh Abedin-Do, Nataly Naser Al Deen, Kazuhito Sato, Xiang Li, André Luiz N. Targino da Costa, Yize Li, Alla Karpova, John M. Herndon, Maxim N. Artyomov, Joshua B. Rubin, Sanjay Jain, Xue Li, Sheila A. Stewart, Li Ding, Feng Chen -
Transcriptome-wide analysis of differential expression in perturbation atlases Nat. Genet. (IF 31.7) Pub Date : 2025-04-21
Ajay Nadig, Joseph M. Replogle, Angela N. Pogson, Mukundh Murthy, Steven A. McCarroll, Jonathan S. Weissman, Elise B. Robinson, Luke J. O’Connor -
Circular RNA discovery with emerging sequencing and deep learning technologies Nat. Genet. (IF 31.7) Pub Date : 2025-04-17
Jinyang Zhang, Fangqing Zhao -
Desmosome mutations in keratinocytes fuel melanoma development Nat. Genet. (IF 31.7) Pub Date : 2025-04-16
Patricia A. Possik, Kerrie L. Marie, David J. Adams -
Desmosome mutations impact the tumor microenvironment to promote melanoma proliferation Nat. Genet. (IF 31.7) Pub Date : 2025-04-16
Maayan Baron, Mohita Tagore, Patrick Wall, Fan Zheng, Dalia Barkley, Itai Yanai, Jing Yang, Maija Kiuru, Richard M. White, Trey Ideker -
Pan-genome analysis reveals the evolution and diversity of Malus Nat. Genet. (IF 31.7) Pub Date : 2025-04-16
Wei Li, Chong Chu, Taikui Zhang, Haochen Sun, Shiyao Wang, Zeyuan Liu, Zijun Wang, Hui Li, Yuqi Li, Xingtan Zhang, Zhiqiang Geng, Youqing Wang, Yi Li, Hengtao Zhang, Weishu Fan, Yi Wang, Xuefeng Xu, Lailiang Cheng, Dehui Zhang, Yao Xiong, Huixia Li, Bowen Zhou, Qingmei Guan, Cecilia H. Deng, Yongming Han, Hong Ma, Zhenhai Han -
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum Nat. Genet. (IF 31.7) Pub Date : 2025-04-14
Samvida S. Venkatesh, Laura B. L. Wittemans, Duncan S. Palmer, Nikolas A. Baya, Teresa Ferreira, Barney Hill, Frederik Heymann Lassen, Melody J. Parker, Saskia Reibe, Ahmed Elhakeem, Karina Banasik, Mie T. Bruun, Christian Erikstrup, Bitten Aagard Jensen, Anders Juul, Christina Mikkelsen, Henriette S. Nielsen, Sisse R. Ostrowski, Ole B. Pedersen, Palle Duun Rohde, Erik Sørensen, Henrik Ullum, David -
Wheat tandem kinase RWT4 directly binds a fungal effector to activate defense Nat. Genet. (IF 31.7) Pub Date : 2025-04-14
Yi-Chang Sung, Yinghui Li, Zoe Bernasconi, Suji Baik, Soichiro Asuke, Beat Keller, Tzion Fahima, Gitta Coaker -
Longitudinal single-cell multiomic atlas of high-risk neuroblastoma reveals chemotherapy-induced tumor microenvironment rewiring Nat. Genet. (IF 31.7) Pub Date : 2025-04-14
Wenbao Yu, Rumeysa Biyik-Sit, Yasin Uzun, Chia-Hui Chen, Anusha Thadi, Jonathan H. Sussman, Minxing Pang, Chi-Yun Wu, Liron D. Grossmann, Peng Gao, David W. Wu, Aliza Yousey, Mei Zhang, Christina S. Turn, Zhan Zhang, Shovik Bandyopadhyay, Jeffrey Huang, Tasleema Patel, Changya Chen, Daniel Martinez, Lea F. Surrey, Michael D. Hogarty, Kathrin Bernt, Nancy R. Zhang, John M. Maris, Kai Tan -
Solanum pan-genome highlights paralog diversification Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Wei LiSolanum is a diverse genus that includes crops such as tomato (Solanum lycopersicum), potato (Solanum tuberosum), eggplant (Solanum melongena) and African eggplant (Solanum aethiopicum), a crop that is indigenous to sub-Saharan Africa. Benoit et al. constructed a pan-genome of the Solanum genus from chromosome-scale genome assemblies for 22 species, capturing the rich phenotypic and genomic diversity
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The PCOS-endometrial cell atlas Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Chiara AnaniaPolycystic ovary syndrome (PCOS) is linked to endometrial issues and associated with comorbidities such as insulin resistance, type 2 diabetes and obesity. Current treatments, including lifestyle changes and metformin administration, mainly manage symptoms rather than tackling the underlying causes, and their cell-type-specific effects are poorly understood. To gain mechanistic insight, Eriksson et
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Genetics of coronary artery dominance Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Kyle VoganVariation in coronary artery anatomy occurs among healthy individuals with respect to positioning of the posterior descending artery, which can arise from the right coronary artery (right dominant), left circumflex artery (left dominant), or both (co-dominant). To identify genetic variants contributing to this anatomical variation, Rios Coronado et al. performed genome-wide association analyses on
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Somatic mutations in the stomach Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Safia DanoviIt is well established that somatic mutations are pervasive in normal tissues. What is less clear is how these mutations set the stage for diseases such as cancer. Coorens et al. addressed this question in the stomach. The team analyzed whole-genome data from 238 gastric glands from 30 participants, of which 18 had gastric cancer. In addition, they generated targeted sequencing data from 829 microdissections
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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà, Brynjar O. Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba, Deirdre Donnelly, Anna Duat Rodríguez, Bárbara Fernández Garoz, Nicola Foulds, Deyanira García-Navas -
A redefined InDel taxonomy provides insights into mutational signatures Nat. Genet. (IF 31.7) Pub Date : 2025-04-10
Gene Ching Chiek Koh, Arjun Scott Nanda, Giuseppe Rinaldi, Soraya Boushaki, Andrea Degasperi, Cherif Badja, Andrew Marcel Pregnall, Salome Jingchen Zhao, Lucia Chmelova, Daniella Black, Laura Heskin, João Dias, Jamie Young, Yasin Memari, Scott Shooter, Jan Czarnecki, Matthew Arthur Brown, Helen Ruth Davies, Xueqing Zou, Serena Nik-Zainal -
Author Correction: Identification of genetic elements that autonomously determine DNA methylation states Nat. Genet. (IF 31.7) Pub Date : 2025-04-09
Florian Lienert, Christiane Wirbelauer, Indrani Som, Ann Dean, Fabio Mohn, Dirk Schübeler -
Mapping genetic diversity with the GenomeIndia project Nat. Genet. (IF 31.7) Pub Date : 2025-04-08
Chandrika Bhattacharyya, Krithika Subramanian, Bharathram Uppili, Nidhan K. Biswas, Shweta Ramdas, Karthik Bharadwaj Tallapaka, Prathima Arvind, Khader Valli Rupanagudi, Arindam Maitra, Tulasi Nagabandi, Tiyasha De, Kuldeep Singh, Praveen Sharma, Nanaocha Sharma, Sunil K. Raghav, Punit Prasad, E. V. Soniya, Abdul Jaleel, Shijulal Nelson Sathi, Madhvi Joshi, Chaitanya Joshi, Mayurika Lahiri, Santosh -
Genetic regulation of gene expression across multiple tissues in chickens Nat. Genet. (IF 31.7) Pub Date : 2025-04-08
Dailu Guan, Zhonghao Bai, Xiaoning Zhu, Conghao Zhong, Yali Hou, Di Zhu, Houcheng Li, Fangren Lan, Shuqi Diao, Yuelin Yao, Bingru Zhao, Xiaochang Li, Zhangyuan Pan, Yahui Gao, Yuzhe Wang, Dong Zou, Ruizhen Wang, Tianyi Xu, Congjiao Sun, Hongwei Yin, Jinyan Teng, Zhiting Xu, Qing Lin, Shourong Shi, Dan Shao, Fabien Degalez, Sandrine Lagarrigue, Ying Wang, Mingshan Wang, Minsheng Peng, Dominique Rocha -
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum Nat. Genet. (IF 31.7) Pub Date : 2025-04-07
David S. M. Lee, Kathleen M. Cardone, David Y. Zhang, Noah L. Tsao, Sarah Abramowitz, Pranav Sharma, John S. DePaolo, Mitchell Conery, Krishna G. Aragam, Kiran Biddinger, Ozan Dilitikas, Lily Hoffman-Andrews, Renae L. Judy, Atlas Khan, Iftikhar J. Kullo, Megan J. Puckelwartz, Nosheen Reza, Benjamin A. Satterfield, Pankhuri Singhal, Zoltan Arany, Thomas P. Cappola, Eric D. Carruth, Sharlene M. Day, -
CHOIR improves significance-based detection of cell types and states from single-cell data Nat. Genet. (IF 31.7) Pub Date : 2025-04-07
Cathrine Sant, Lennart Mucke, M. Ryan Corces -
A telomere-to-telomere genome assembly coupled with multi-omic data provides insights into the evolution of hexaploid bread wheat Nat. Genet. (IF 31.7) Pub Date : 2025-04-07
Shoucheng Liu, Kui Li, Xiuru Dai, Guochen Qin, Dongdong Lu, Zhaoxu Gao, Xiaopeng Li, Bolong Song, Jianxin Bian, Da Ren, Yongqi Liu, Xiaofeng Chen, Yunbi Xu, Weimin Liu, Chen Yang, Xiaoqin Liu, Shisheng Chen, Jian Li, Bosheng Li, Hang He, Xing Wang Deng -
A conserved checkpoint for ligand-dependent enhancer activation Nat. Genet. (IF 31.7) Pub Date : 2025-04-04