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Genetics of disease

AD-GCN: A novel graph convolutional network integrating multi-omics data for enhanced Alzheimer’s disease diagnosis

Zilu Li, Qingyun Li, Xiaoqing Li, Wei Luo, Haiyan Guo, Chunyan Zhao, Canzhen Yang, Anke Xie, Kai Hu, Yangfan Guo

published 02 Jun 2025

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Bidirectional genetic links between chronic obstructive pulmonary disease and frailty: Genome-wide association study insights

Fuhui Yan, Tong Wu, Qiang Meng, Feng Qu

published 29 May 2025

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Estimating multiplicity of infection, haplotype frequencies, and linkage disequilibria from multi-allelic markers for molecular disease surveillance

Henri Christian Junior Tsoungui Obama, Kristan Alexander Schneider

published 27 May 2025

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The impact of VUS reclassification on reproductive decision making

Alexandra Peyser, Kenan Onel, Avner Hershlag

published 27 May 2025

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Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing

Zainab Gaouzi, Aziza Belkhayat, Zahra Chebihi Takki, Hind Lachraf, Idrissa Diawara, Yamna Kriouile

published 19 May 2025

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Genome-wide association studies on malaria in Sub-Saharan Africa: A scoping review

Morine Akoth, John Odhiambo, Bernard Omolo

published 16 May 2025

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Evidence to shared genetic correlation of ischemic stroke and intracerebral hemorrhage and cardiovascular related traits

Wei He, Jiajia Shi, Yiming Qian, Tao Fan, Xuehong Cai, Haochang Li, Peng Huang, Qin Shi

published 23 Apr 2025

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Effects of essential tremor on longevity and mortality rates in families

Onur Emre Onat, Faruk Ustunel, Cem Akbostanci, Kivilcim E. Doganyigit, Merve Sen, Emre Can Gunaydin, Kaya Bilguvar, Muhittin Cenk Akbostanci

published 07 Apr 2025

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The causal effects of inflammatory bowel disease on its ocular manifestations: A Mendelian randomization study

Lian Luo, Xiaowei Tang, Jia Xu, Yuxi Bao, Xinyue Hu, Xiaolin Zhong

published 12 Mar 2025

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Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma

Aitana Avendaño Pomares, Laura Rodríguez Merino, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, on behalf of GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain

published 11 Mar 2025

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Genetic evidence for amlodipine’s protective role in gastroesophageal reflux disease: A focus on CACNB2

Liuzhao Zhang, Quanwang Chu, Shuyue Jiang, Bo Shao

published 18 Feb 2025

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The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study

Michal Kaminer Abargel, Michal Macarov, Karen Hendler, Claudia Yahalom

published 13 Feb 2025

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Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder

Caroline C. McGrouther, Aaditya V. Rangan, Arianna Di Florio, Jeremy A. Elman, Nicholas J. Schork, John Kelsoe, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium

published 29 Jan 2025

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