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Mutation detection

Identification of coexisting Mfrp^rd6 and Pde6b^rd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice

Asaka Lee Shiozawa, Maika Hosoi Kobayashi, Yusuke Shiozawa, Yasuhiro Ikeda, Yoshitaka Miyagawa, Fumiki Okamoto, Mashito Sakai, Takashi Okada, Tsutomu Igarashi

published 23 Sep 2025

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Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand

Supat Chamnanchanunt, Beatriz Aira C. Jacob, Vipa Thanachartwet, Varunee Desakorn, Natsamon Singha-art, Duangjai Sahassananda, Kamonwan Chamchoy, Naveen Eugene Louis, Muawiaa Ahmed Hamza, Nurriza Ab Latif, Syazwani Itri Amran, Henry A. F. Stephens, Wang Nguitragool, Usa Boonyuen

published 18 Sep 2025

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Evaluation of the Xpert MTB/XDR test for detection of isoniazid, fluoroquinolones, and second-line injectable drugs resistance to Mycobacterium tuberculosis—Anhui Province, China

Ruiqing Zhang, Xundi Bao, Fangjin Bao, Chong Teng, Dongfang Xu, Zhou Liu, Yue Li, Bing Zhao, Hui Xia, Ruida Xing, Xichao Ou, Yanlin Zhao

published 12 Sep 2025

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Interferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease

Daniel R. Ambruso, Natalie J. Briones, Alexander D. Tran, Bridget Sanford, Christine Childs, Ben Z. Katz, Michael Ellison, Richard B. Johnston, Kenneth L. Jones

published 08 Sep 2025

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Prevalence and diagnostic reliability of BRAF, RAS mutations, and RET/PTC rearrangements in a Latin American public health service population with thyroid nodular disease

Freddy David Moposita Molina, Grasiela Agnes, Marília Remuzzi Zandoná, Rogério Izquierdo, Fábio Alves Bilhar, Laura Berton Eidt, Virgílio Gonzales Zanella, Luiz Felipe Osowski, Sofia de Oliveira Belardinelli, Amanda Cometti de Andrade, Erika Laurini de Souza Meyer, Lenara Golbert, Vanessa Suñé Mattevi

published 01 Aug 2025

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Next-Generation Sequencing (NGS) in non-small cell lung carcinoma: A real-world experience in the public health system of Galicia (Northwest Spain)

Ihab Abdulkader-Nallib, José Manuel Cameselle-Teijeiro, Iván Lesende-Rodríguez, Raquel Pérez-Becerra, José Ramón Antúnez-López, Jorge García-González, Luis León-Mateos, María Sánchez-Ares

published 01 Jul 2025

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Whole genome sequencing revealed esophageal squamous cell carcinoma related biomarkers

Mingjun Li, Lei Li, Xizi Wang, Yanwei Zhao, Peina Du, Wei Wang, Zhenxing Wang, Yadong Wang, Yanxing Sheng, Mingliang Gu, Xiaodong Jia

published 26 Jun 2025

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SARS-COV-2 mutations in North Rift, Kenya

Elius Mbogori, Kelvin Thiongo, Harrison Yunying Deng, Caroline Wangui Gikunyu, Winfrida Cheriro, Stanslaus Musyoki, Richard Biegon, Damaris Matoke-Muhia, Kirtika Patel, Binhua Liang, Elijah Songok

published 06 Jun 2025

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Benchmarking inverse folding models for antibody CDR sequence design

Yifan Li, Yuxiang Lang, Chenrui Xu, Yi Zhou, Ziwei Pang, Per Jr. Greisen

published 04 Jun 2025

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Dissemination of local sub-variants of SARS-CoV-2 detected by detailed mutation analysis in wastewater-based epidemiology

Ryo Honda, Takashi Abe, Tomoya Baba, Yui Araki, Tomohiro Kuroita, Ryo Iwamoto, Mayo Ito, Nami Okamura, Marie Kenza Yousri, Takashi Tamura, Satoshi Ezaki, Masanori Arita

published 28 May 2025

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Use of allele-specific qPCR and PCR-RFLP analysis for rapid detection of the SARS-CoV-2 variants in Tunisia: A cheap flexible approach adapted for developing countries

Wajdi Ayadi, Fahmi Smaoui, Saba Gargouri, Sana Ferjani, Zaineb Hamzaoui, Awatef Taktak, Amel Chtourou, Houda Skouri-Gargouri, Azza Hadj Sassi, Mouna Ben Sassi, Sameh Trabelsi, Ali Gargouri, Ilhem Boutiba-Ben Boubaker, Héla Karray-Hakim, Raja Mokdad-Gargouri, Lamia Feki-Berrajah

published 05 May 2025

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stilPCR increases the effective sequencing length of Illumina targeted next-generation sequencing

Jason D. Limberis, Roland J. Nagel, Soumitesh Chakravorty, Dena Block, Scott Dewell, Alina Nalyvayko, Zach Howard, Grant Theron, Rouxjeane Venter, John Z. Metcalfe

published 09 Dec 2024

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Genomic assessment of targets implicated in Rhipicephalus microplus acaricide resistance

Christina Meiring, Michel Labuschagne

published 05 Dec 2024

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