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Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk

Authors: Marios K. Georgakis, Rainer Malik, Omar El Bounkari, Natalie R. Hasbani, Jiang Li, Jennifer E. Huffman, Gabrielle Shakt, Reinier W. P. Tack, Tamara N. Kimball, Yaw Asare, Alanna C. Morrison, Noah L. Tsao, Renae Judy, Braxton D. Mitchell, Huichun Xu, May E. Montasser…

Citation: Genome Medicine 2025 17:27

Content type: Research Published on: 21 March 2025
Batch correcting single-cell spatial transcriptomics count data with Crescendo improves visualization and detection of spatial gene patterns

Authors: Nghia Millard, Jonathan H. Chen, Mukta G. Palshikar, Karin Pelka, Maxwell Spurrell, Colles Price, Jiang He, Nir Hacohen, Soumya Raychaudhuri and Ilya Korsunsky

Citation: Genome Biology 2025 26:36

Content type: Method Published on: 25 February 2025
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability

Authors: Reece K. Hart, Ivo F. A. C. Fokkema, Marina DiStefano, Ros Hastings, Jeroen F. J. Laros, Rachel Taylor, Alex H. Wagner and Johan T. den Dunnen

Citation: Genome Medicine 2024 16:149

Content type: Guideline Published on: 20 December 2024
Graph neural processes for molecules: an evaluation on docking scores and strategies to improve generalization

Authors: Miguel García-Ortegón, Srijit Seal, Carl Rasmussen, Andreas Bender and Sergio Bacallado

Citation: Journal of Cheminformatics 2024 16:115

Content type: Research Published on: 23 October 2024
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

Authors: Amina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, Emily Evangelista, Leena Panwala, Amanda Hope, Stefanie M. Heinrich, Samantha Baxter and Mark J. Kiel

Citation: Orphanet Journal of Rare Diseases 2024 19:388

Content type: Research Published on: 18 October 2024
C-ziptf: stable tensor factorization for zero-inflated multi-dimensional genomics data

Authors: Daniel Chafamo, Vignesh Shanmugam and Neriman Tokcan

Citation: BMC Bioinformatics 2024 25:323

Content type: Research Published on: 5 October 2024
Genetics of hip dysplasia – a systematic literature review

Authors: Kaya Kvarme Jacobsen, Lene Bjerke Laborie, Hege Kristiansen, Annette Schäfer, Trude Gundersen, Tetyana Zayats and Karen Rosendahl

Citation: BMC Musculoskeletal Disorders 2024 25:762

Content type: Systematic Review Published on: 1 October 2024
Internal initiation of reverse transcription in a Penelope-like retrotransposon

Authors: Chris J. Frangieh, Max E. Wilkinson, Daniel Strebinger, Jonathan Strecker, Michelle L. Walsh, Guilhem Faure, Irina A. Yushenova, Rhiannon K. Macrae, Irina R. Arkhipova and Feng Zhang

Citation: Mobile DNA 2024 15:12

Content type: Brief Report Published on: 11 June 2024
Study Protocol: Global Research Initiative on the Neurophysiology of Schizophrenia (GRINS) project

Authors: Jun Wang, Chenguang Jiang, Zhenglin Guo, Sinéad Chapman, Nataliia Kozhemiako, Dimitrios Mylonas, Yi Su, Lin Zhou, Lu Shen, Shengying Qin, Michael Murphy, Shuping Tan, Dara S. Manoach, Robert Stickgold, Hailiang Huang, Zhenhe Zhou…

Citation: BMC Psychiatry 2024 24:433

Content type: Study Protocol Published on: 10 June 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Authors: Sarah L. Stenton, Melanie C. O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay S. Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S. Pais, Jillian Serrano, Moriel Singer-Berk, Ben Weisburd, Michael W. Wilson, Christina Austin-Tse…

Citation: Human Genomics 2024 18:44

Content type: Research Published on: 29 April 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testing

Authors: Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith…

Citation: BMC Research Notes 2024 17:62

Content type: Research Note Published on: 3 March 2024
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients

Authors: Mohammed Al-Jumaan, Hoyin Chu, Abdullah Alsulaiman, Sabrina Y. Camp, Seunghun Han, Riaz Gillani, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Al Nemer, Afnan Almuhanna, Eliezer M. Van Allen, Amein Al-Ali and Saud H. AlDubayan

Citation: Genome Medicine 2023 15:65

Content type: Research Published on: 1 September 2023
Partial gene suppression improves identification of cancer vulnerabilities when CRISPR-Cas9 knockout is pan-lethal

Authors: J. Michael Krill-Burger, Joshua M. Dempster, Ashir A. Borah, Brenton R. Paolella, David E. Root, Todd R. Golub, Jesse S. Boehm, William C. Hahn, James M. McFarland, Francisca Vazquez and Aviad Tsherniak

Citation: Genome Biology 2023 24:192

Content type: Research Published on: 23 August 2023
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture

Authors: Jennifer R. S. Meadows, Jeffrey M. Kidd, Guo-Dong Wang, Heidi G. Parker, Peter Z. Schall, Matteo Bianchi, Matthew J. Christmas, Katia Bougiouri, Reuben M. Buckley, Christophe Hitte, Anthony K. Nguyen, Chao Wang, Vidhya Jagannathan, Julia E. Niskanen, Laurent A. F. Frantz, Meharji Arumilli…

Citation: Genome Biology 2023 24:187

Content type: Research Published on: 15 August 2023

The Author Correction to this article has been published in Genome Biology 2023 24:255
Morphological and transcriptomic analyses of stem cell-derived cortical neurons reveal mechanisms underlying synaptic dysfunction in schizophrenia

Authors: Annie Kathuria, Kara Lopez-Lengowski, Bradley Watmuff and Rakesh Karmacharya

Citation: Genome Medicine 2023 15:58

Content type: Research Published on: 28 July 2023
An Atlas of Variant Effects to understand the genome at nucleotide resolution

Authors: Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita and Matthew E. Hurles

Citation: Genome Biology 2023 24:147

Content type: Correspondence Published on: 3 July 2023
The effect of background noise and its removal on the analysis of single-cell expression data

Authors: Philipp Janssen, Zane Kliesmete, Beate Vieth, Xian Adiconis, Sean Simmons, Jamie Marshall, Cristin McCabe, Holger Heyn, Joshua Z. Levin, Wolfgang Enard and Ines Hellmann

Citation: Genome Biology 2023 24:140

Content type: Research Published on: 19 June 2023
RNA-based amplicon sequencing is ineffective in measuring metabolic activity in environmental microbial communities

Authors: Ya Wang, Kelsey N. Thompson, Yan Yan, Meghan I. Short, Yancong Zhang, Eric A. Franzosa, Jiaxian Shen, Erica M. Hartmann and Curtis Huttenhower

Citation: Microbiome 2023 11:131

Content type: Research Published on: 13 June 2023
Rescuing biologically relevant consensus regions across replicated samples

Authors: Vahid Jalili, Marzia A. Cremona and Fernando Palluzzi

Citation: BMC Bioinformatics 2023 24:240

Content type: Research Published on: 7 June 2023
Prediction of treatment response to antipsychotic drugs for precision medicine approach to schizophrenia: randomized trials and multiomics analysis

Authors: Liang-Kun Guo, Yi Su, Yu-Ya-Nan Zhang, Hao Yu, Zhe Lu, Wen-Qiang Li, Yong-Feng Yang, Xiao Xiao, Hao Yan, Tian-Lan Lu, Jun Li, Yun-Dan Liao, Zhe-Wei Kang, Li-Fang Wang, Yue Li, Ming Li…

Citation: Military Medical Research 2023 10:24

Content type: Research Published on: 2 June 2023