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Mutation detection

The association of EGFR amplification with aberrant exon 20 insertion report using the cobas EGFR Mutation Test v2

Man-San Zhang, Yi-Chen Yeh, Hsien-Neng Huang, Long-Wei Lin, Yen-Lin Huang, Lei-Chi Wang, Lai-Jin Yao, Tze-Chun Hung, Yu-Fen Tseng, Yi-Hsuan Lee, Wei-Yu Liao, Jin-Yuan Shih, Min-Shu Hsieh

published 30 Apr 2024

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Performance characteristics of a polymerase chain reaction-based assay for the detection of EGFR mutations in plasma cell-free DNA from patients with non-small cell lung cancer using cell-free DNA collection tubes

Theresa May, Michelle S. Clement, Harkanwal Halait, Alexander Kohlmann, Milena Kohlmann, Jason Lai, Nitta Lee, Xiaocheng Li-Sucholeiki, Peter Meldgaard, Snehal Joshi, Sidney Scudder, Neelima Shrestha, Boe Sorensen, Marilyn Kiral, Patrick O’Donnell

published 09 Apr 2024

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CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing

Sijia Xu, Hiroki Shiomi, Yugo Yamashita, Satoshi Koyama, Takahiro Horie, Osamu Baba, Masahiro Kimura, Yasuhiro Nakashima, Naoya Sowa, Koji Hasegawa, Ayako Suzuki, Yutaka Suzuki, Takeshi Kimura, Koh Ono

published 20 Mar 2024

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A novel method for the isolation of single cells mimicking circulating tumour cells adhered on Smart Bio Surface slides by Laser Capture Microdissection

Grazia Visci, Doron Tolomeo, Angelo Lonoce, Aram Arshadi, Lorenzo Bascetta, Gianluca Trotta, Margot van Riel, Joris Robert Vermeesch, Roberta Carbone, Clelia Tiziana Storlazzi

published 08 Mar 2024

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Differential laboratory passaging of SARS-CoV-2 viral stocks impacts the in vitro assessment of neutralizing antibodies

Aram Avila-Herrera, Jeffrey A. Kimbrel, Jose Manuel Martí, James Thissen, Edwin A. Saada, Tracy Weisenberger, Kathryn T. Arrildt, Brent W. Segelke, Jonathan E. Allen, Adam Zemla, Monica K. Borucki

published 25 Jan 2024

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Genetic profiling of rat gliomas and cardiac schwannomas from life-time radiofrequency radiation exposure study using a targeted next-generation sequencing gene panel

Ashley M. Brooks, Andrea Vornoli, Ramesh C. Kovi, Thai Vu T. Ton, Miaofei Xu, Ahmed Mashal, Eva Tibaldi, Federica Gnudi, Jian-Liang Li, Robert C. Sills, John R. Bucher, Daniele Mandrioli, Fiorella Belpoggi, Arun R. Pandiri

published 17 Jan 2024

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Monitoring SARS-CoV-2 genetic variability: A post-market surveillance workflow for combined bioinformatic and laboratory evaluation of commercial RT-PCR assay performance

Barbara Kosińska-Selbi, Justyna Kowalczyk, Jagoda Pierscińska, Jarosław Wełeszczuk, Luis Peñarrubia, Benjamin Turner, Josep Pareja, Roberto Porco, Rubi Diaz-Hernandez, Martí Juanola-Falgarona, Melisa Rey, Davide Manissero, Anna Blacha

published 12 Jan 2024

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Performance of the cobas EZH2 mutation test on clinical samples from non-Hodgkin lymphoma patients

Johnny Y. Shyu, Peter A. Schlag, Sylwia M. Karwowska, Chitra F. Manohar, Huan M. Truong, John W. Longshore, Guili Zhang

published 14 Dec 2023

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A precision overview of genomic resistance screening in Ecuadorian isolates of Mycobacterium tuberculosis using web-based bioinformatics tools

Gabriel Morey-León, Paulina M. Mejía-Ponce, Juan Carlos Granda Pardo, Karen Muñoz-Mawyin, Juan Carlos Fernández-Cadena, Evelyn García-Moreira, Derly Andrade-Molina, Cuauhtémoc Licona-Cassani, Luisa Berná

published 05 Dec 2023

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Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Kamonwan Chamchoy, Sirapapha Sudsumrit, Jutamas Wongwigkan, Songsak Petmitr, Duantida Songdej, Emily R. Adams, Thomas Edwards, Ubolsree Leartsakulpanich, Usa Boonyuen

published 15 Nov 2023

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Antimicrobial drug resistant features of Mycobacterium tuberculosis associated with treatment failure

Fizza Mushtaq, Syed Mohsin Raza, Adeel Ahmad, Hina Aslam, Atiqa Adeel, Sidrah Saleem, Irfan Ahmad

published 26 Oct 2023

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Rapid extraction-free detection of the R132H isocitrate dehydrogenase mutation in glioma using colorimetric peptide nucleic acid-loop mediated isothermal amplification (CPNA-LAMP)

Kristian A. Choate, Edward J. Raack, Veronica F. Line, Matthew J. Jennings, Robert J. Belton Jr., Robert J. Winn, Paul B. Mann

published 21 Sep 2023

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A novel rapid detection method for a single-nucleotide substitution mutation derived from canine urothelial and prostatic carcinoma cells present in small amounts in urine sediments

Shiro Okumura, Yoshiharu Ohsato

published 21 Sep 2023

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