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Human genomics

SuperSelective PCR primers for determining cis/trans configurations of mutations within the same gene

Diana Yaneth Vargas, Fred Russell Kramer

published 18 May 2026

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Comparison of unbiased metagenomic next generation sequencing to targeted multiplex diagnostic assays for the detection of respiratory viruses

Justin Hardick, Raghavendran Anantharam, Jennifer Lu, Steven L. Salzberg, Richard E. Rothman, Katherine Z. J. Fenstermacher, Andrew Pekosz, Annet Onzia, Lydia Nakiyingi, Yukari C. Manabe, Abraham J. Kandathil

published 07 May 2026

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In vitro culture of human-infecting Encephalitozoon spp. for genome sequencing with minimal host contaminant

Anne Caroline Mascarenhas dos Santos, Pingdong Liang, Oscar X. Juárez, Jean-François Pombert, Karina Tuz

published 11 Mar 2026

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Doing more with less: Genomic quasi-G-primes differentiate septic from healthy patients

Congzhou M. Sha, Michail Patsakis, Ioannis Mouratidis, Xiaoyuan Wei, Taejung Chung, Jasna Kovac, Ilias Georgakopoulos-Soares

published 06 Feb 2026

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Large-scale multi-omic biosequence transformers for modeling protein–nucleic acid interactions

Sully F. Chen, Robert J. Steele, Glen M. Hocky, Beakal Lemeneh, Shivanand P. Lad, Eric K. Oermann

published 02 Feb 2026

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ReadSeeker: A DNABERT based de-novo read-level gene predictor

Ben Wulf, Piotr Wojciech Dabrowski

published 13 Nov 2025

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Improved CRISPR/Cas9 off-target prediction with DNABERT and epigenetic features

Kai Kimata, Kenji Satou

published 12 Nov 2025

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Multiplets in scRNA-seq data: Extent of the problem and efficacy of methods for removal

Dimitris Ttoouli, Daniel Hoffmann

published 30 Oct 2025

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A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng

published 24 Oct 2025

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Understanding and mitigating the impact of ambient mRNA contamination in single-cell RNA-sequencing analysis

Jantarika Kumar Arora, Louisa K. James, Varodom Charoensawan

published 24 Sep 2025

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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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