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Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

التفاصيل البيبلوغرافية
العنوان: Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
المؤلفون: Ricardo Sánchez, Sara Dorado, Yanira Ruíz-Heredia, Alejandro Martín-Muñoz, Juan Manuel Rosa-Rosa, Jordi Ribera, Olga García, Ana Jimenez-Ubieto, Gonzalo Carreño-Tarragona, María Linares, Laura Rufián, Alexandra Juárez, Jaime Carrillo, María José Espino, Mercedes Cáceres, Sara Expósito, Beatriz Cuevas, Raúl Vanegas, Luis Felipe Casado, Anna Torrent, Lurdes Zamora, Santiago Mercadal, Rosa Coll, Marta Cervera, Mireia Morgades, José Ángel Hernández-Rivas, Pilar Bravo, Cristina Serí, Eduardo Anguita, Eva Barragán, Claudia Sargas, Francisca Ferrer-Marín, Jorge Sánchez-Calero, Julián Sevilla, Elena Ruíz, Lucía Villalón, María del Mar Herráez, Rosalía Riaza, Elena Magro, Juan Luis Steegman, Chongwu Wang, Paula de Toledo, Valentín García-Gutiérrez, Rosa Ayala, Josep-Maria Ribera, Santiago Barrio, Joaquín Martínez-López
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
بيانات النشر: Nature Portfolio, 2022.
سنة النشر: 2022
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: Abstract The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E−4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2045-2322
العلاقة: https://doaj.org/toc/2045-2322Test
DOI: 10.1038/s41598-022-17271-3
الوصول الحر: https://doaj.org/article/900f483793a442ea9469078a704f59faTest
رقم الانضمام: edsdoj.900f483793a442ea9469078a704f59fa
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20452322
DOI:10.1038/s41598-022-17271-3