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Mutation detection

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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PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, Essya Saied, Linda Bel Haj Kacem, Nada Mansouri, Sinda Zarrouk, Saifeddine Azouz, Soumaya Rammeh

published 17 May 2023

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Diagnostic performance of the GenoType MTBDRplus VER 2.0 line probe assay for the detection of isoniazid resistant Mycobacterium tuberculosis in Ethiopia

Shewki Moga, Kidist Bobosha, Dinka Fikadu, Betselot Zerihun, Getu Diriba, Misikir Amare, Russell R. Kempker, Henry M. Blumberg, Tamrat Abebe

published 26 Apr 2023

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Rapid genomic surveillance of SARS-CoV-2 in a dense urban community of Kathmandu Valley using sewage samples

Rajindra Napit, Prajwol Manandhar, Ashok Chaudhary, Bishwo Shrestha, Ajit Poudel, Roji Raut, Saman Pradhan, Samita Raut, Pragun G. Rajbhandari, Anupama Gurung, Rajesh M. Rajbhandari, Sameer M. Dixit, Jessica S. Schwind, Christine K. Johnson, Jonna K. Mazet, Dibesh B. Karmacharya

published 30 Mar 2023

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Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen^® FFPE BRAF qPCR assay

Anna Lahn Sørensen, Mariann Guldmann-Christensen, Michael Børgesen, Rasmus Koefoed Petersen, Katharina Flugt, Julie Mejer Holmgaard Duelund, Majbritt Hauge Kyneb, Jan Lorenzen, Emma Pipó-Ollé, Samantha Epistolio, Alice Riva, Giulia Dazio, Elisabetta Merlo, Tine Meyer, Ulf Bech Christensen, Milo Frattini

published 09 Feb 2023

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Molecular evidence of parallel evolution in a cyanophage

Jesslyn Tjendra, Julia E. Storesund, Håkon Dahle, Ruth-Anne Sandaa, Selina Våge

published 09 Feb 2023

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Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging

Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist

published 05 Jan 2023

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Selection of genotypes harbouring mutations in the cytochrome b gene of Theileria annulata is associated with resistance to buparvaquone

Selin Hacılarlıoglu, Huseyin Bilgin Bilgic, Serkan Bakırcı, Andrew Tait, William Weir, Brian Shiels, Tulin Karagenc

published 04 Jan 2023

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High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls

Miko Valori, Joonas Lehikoinen, Lilja Jansson, Jonna Clancy, Sofie A. Lundgren, Satu Mustjoki, Pentti Tienari

published 28 Nov 2022

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Molecular diversity of hepatitis B virus among pregnant women in Amhara National Regional State, Ethiopia

Mulat Dagnew, Feleke Moges, Moges Tiruneh, Yihenew Million, Aschalew Gelaw, Mulat Adefris, Yeshambel Belyhun, Uwe G. Liebert, Melanie Maier

published 15 Nov 2022

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