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Mutation detection

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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Mutations in microRNA-128-2-3p identified with amplification-free hybridization assay

Sofie Slott, Cecilie Schiøth Krüger-Jensen, Izabela Ferreira da Silva, Nadia Bom Pedersen, Kira Astakhova

published 22 Aug 2023

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Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

published 10 Aug 2023

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Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv

Flora Alarcon, Violaine Planté-Bordeneuve, Grégory Nuel

published 10 Aug 2023

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SARS-CoV-2 spike protein diversity at an intra-host level, among SARS-CoV-2 infected individuals in South Africa, 2020 to 2022

Kathleen Subramoney, Nkhensani Mtileni, Ashlyn Davis, Jennifer Giandhari, Houriiyah Tegally, Eduan Wilkinson, Yeshnee Naidoo, Yajna Ramphal, Sureshnee Pillay, Upasana Ramphal, Andiswa Simane, Bhaveshan Reddy, Bonolo Mashishi, Nonhlanhla Mbenenge, Tulio de Oliveira, Burtram C. Fielding, Florette K. Treurnicht

published 30 May 2023

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Temporal convolutional network for a Fast DNA mutation detection in breast cancer data

Untari Novia Wisesty, Tati Rajab Mengko, Ayu Purwarianti, Adi Pancoro

published 25 May 2023

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Reconsideration of importance of the point mutation L982W in the voltage-sensitive sodium channel of the pyrethroid resistant Aedes aegypti (L.)(Diptera: Culicidae) in Vietnam

Hitoshi Kawada, Yukiko Higa, Shinji Kasai

published 17 May 2023

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