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Human genomics

18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia

Yang Liu, Shao-Chi Zhang, Wen Zhang, Zhong-Qi Xue, Yi-Xuan Qin, Shun-Yu Piao, Wen-Jing Li, Meng-Li Ji, Wen-Juan Zhuang

published 08 Sep 2025

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Differential microRNA profiling of the Marshallese population in Arkansas reveals a higher association with chronic diseases

Gohar Azhar, Ambika Verma, Pankaj Patyal, Wei Zhang, Shakshi Sharma, Patricia E. Savary, Sheldon Riklon, Philmar Mendoza Kabua, Pearl A. McElfish, Jeanne Y. Wei

published 11 Aug 2025

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Apparent differences between human and chimp proteomes are reduced when considering human population: Human specific variants are enriched in disordered and compositionally biased regions

Pablo Mier, Miguel A. Andrade-Navarro, Enrique Morett

published 31 Jul 2025

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Positional distribution of transcription factor binding sites in the human genome

Chun-Ping Yu, Zhi Thong Soh, Maloyjo Joyraj Bhattacharjee, Wen-Hsiung Li

published 30 Jul 2025

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Dissecting cell-free DNA fragmentation variation in tumors using cell line-derived xenograft mouse

Ruiqing Fu, He Amy Su, Yi Zhao, Yafei Tian, Hongyan Chen, Daru Lu

published 15 Jul 2025

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Rationale and study protocol of the MAMELI Cohort study (Mapping the Methylation of repetitive elements to track the Exposome effects on health: the city of Legnano as a Living lab)

Valentina Bollati, Federica Rota, Laura Dioni, Chiara Favero, Simona Iodice, Marta Gallazzi, Andrea Spinazzè, Giacomo Fanti, Davide Campagnolo, Tiago Nardi, Davide Biganzoli, Eva Dariol, Rachele Matsagani, Mirjam Hoxha, Paola Monti, Benedetta Albetti, Letizia Tarantini, Davide Barbuto, Ester Luconi, Giuseppe Marano, Giacomo Biganzoli, Roberta Biciuffi, Patrizia Boracchi, Domenico M. Cavallo, Pilar M. Guerrieri, Fabio Mosca, Stefano Gustincich, Giovanni Sanesi, Luca Ferrari, Michele Carugno, Silvia Fustinoni, Angela Cecilia Pesatori, Luca Pandolfini, Michele Miragoli, Andrea Cattaneo, Elia Biganzoli

published 09 Jul 2025

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Short tandem repeat variants are possibly associated with RNA secondary structure and gene expression

Nick Kinney, Dikshya Pathak, Emma Evans, Paola Arias

published 18 Jun 2025

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Host-pathogen protein interaction studies: quality control of cDNA libraries using nanopore sequencing

Cécile Schimmich, Mathilde Gondard, Gregory Caignard, José-Carlos Valle-Casuso, Damien Vitour, François Piumi

published 30 May 2025

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Utilizing a deep learning model based on BERT for identifying enhancers and their strength

Tong Wang, Mengqi Gao

published 09 Apr 2025

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An updated compendium and reevaluation of the evidence for nuclear transcription factor occupancy over the mitochondrial genome

Georgi K Marinov, Vivekanandan Ramalingam, William J Greenleaf, Anshul Kundaje

published 31 Mar 2025

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Detection of hepatitis B virus mRNA from single cell RNA sequencing data without prior knowledge

Nicolaas Van Renne, Thomas Vanwolleghem

published 11 Feb 2025

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Comparisons of performances of structural variants detection algorithms in solitary or combination strategy

De-Min Duan, Chinyi Cheng, Yu-Shu Huang, An-ko Chung, Pin-Xuan Chen, Yu-An Chen, Jacob Shujui Hsu, Pei-Lung Chen

published 06 Feb 2025

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A genomics learning framework for undergraduates

Laura K. Reed, Adam J. Kleinschmit, Vincent Buonaccorsi, Arthur G. Hunt, Douglas Chalker, Jason Williams, Christopher J. Jones, Juan-Carlos Martinez-Cruzado, Anne Rosenwald

published 09 Jan 2025

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