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Mutation detection

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

Sun Hee Rosenthal, Anna Gerasimova, Charles Ma, Hai-Rong Li, Andrew Grupe, Hansook Chong, Allan Acab, Alla Smolgovsky, Renius Owen, Christopher Elzinga, Rebecca Chen, Daniel Sugganth, Tracey Freitas, Jennifer Graham, Kristen Champion, Anindya Bhattacharya, Frederick Racke, Felicitas Lacbawan

published 28 Apr 2021

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Distribution of naturally -occurring NS5B resistance-associated substitutions in Egyptian patients with chronic Hepatitis C

Hala Rady Ahmed, Nancy G. F. M. Waly, Rehab Mahmoud Abd El-Baky, Ramadan Yahia, Helal F. Hetta, Amr M. Elsayed, Reham Ali Ibrahem

published 15 Apr 2021

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The diagnostic accuracy of digital PCR, ARMS and NGS for detecting KRAS mutation in cell-free DNA of patients with colorectal cancer: A systematic review and meta-analysis

Peng Ye, Peiling Cai, Jing Xie, Yuanyuan Wei

published 26 Mar 2021

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Drug-resistant TB prevalence study in 5 health institutions in Haiti

Jonathan Hoffmann, Carole Chedid, Oksana Ocheretina, Chloé Masetti, Patrice Joseph, Marie-Marcelle Mabou, Jean Edouard Mathon, Elie Maxime Francois, Juliane Gebelin, François-Xavier Babin, Laurent Raskine, Jean William Pape

published 18 Mar 2021

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Development of a program for in silico optimized selection of oligonucleotide-based molecular barcodes

In Seok Yang, Sang Won Bae, BeumJin Park, Sangwoo Kim

published 18 Feb 2021

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Prognostic value of integrated cytogenetic, somatic variation, and copy number variation analyses in Korean patients with newly diagnosed multiple myeloma

Nuri Lee, Sung-Min Kim, Youngeun Lee, Dajeong Jeong, Jiwon Yun, Sohee Ryu, Sung-Soo Yoon, Yong-Oon Ahn, Sang Mee Hwang, Dong Soon Lee

published 05 Feb 2021

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Rapid detection of ERG11 polymorphism associated azole resistance in Candida tropicalis

Saikat Paul, Rajneesh Dadwal, Shreya Singh, Dipika Shaw, Arunaloke Chakrabarti, Shivaprakash M. Rudramurthy, Anup K. Ghosh

published 13 Jan 2021

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Robust radiogenomics approach to the identification of EGFR mutations among patients with NSCLC from three different countries using topologically invariant Betti numbers

Kenta Ninomiya, Hidetaka Arimura, Wai Yee Chan, Kentaro Tanaka, Shinichi Mizuno, Nadia Fareeda Muhammad Gowdh, Nur Adura Yaakup, Chong-Kin Liam, Chee-Shee Chai, Kwan Hoong Ng

published 11 Jan 2021

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Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation

Mikael Koponen, Annukka Marjamaa, Annukka M. Tuiskula, Matti Viitasalo, Terhi Nallinmaa-Luoto, Jaakko T. Leinonen, Elisabeth Widen, Lauri Toivonen, Kimmo Kontula, Heikki Swan

published 14 Dec 2020

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Optimal path test data generation based on hybrid negative selection algorithm and genetic algorithm

Shayma Mustafa Mohi-Aldeen, Radziah Mohamad, Safaai Deris

published 30 Nov 2020

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Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing

Matilda Holm, Emma Andersson, Emerik Osterlund, Ali Ovissi, Leena-Maija Soveri, Anna-Kaisa Anttonen, Soili Kytölä, Kristiina Aittomäki, Pia Osterlund, Ari Ristimäki

published 25 Nov 2020

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Prevalence and genetic variability of occult hepatitis B virus in a human immunodeficiency virus positive patient cohort in Gondar, Ethiopia

Nishi H. Patel, Vanessa Meier-Stephenson, Meaza Genetu, Debasu Damtie, Ebba Abate, Shitaye Alemu, Yetework Aleka, Guido Van Marle, Kevin Fonseca, Carla S. Coffin, Tekalign Deressa

published 19 Nov 2020

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Genetic diversity of SARS-CoV-2 and clinical, epidemiological characteristics of COVID-19 patients in Hanoi, Vietnam

Tam Thi Nguyen, Thach Ngoc Pham, Trang Dinh Van, Trang Thu Nguyen, Diep Thi Ngoc Nguyen, Hoa Nguyen Minh Le, John-Sebastian Eden, Rebecca J. Rockett, Thuong Thi Hong Nguyen, Bich Thi Ngoc Vu, Giang Van Tran, Tan Van Le, Dominic E. Dwyer, H. Rogier van Doorn, on behalf of the OUCRU COVID-19 Research Group

published 17 Nov 2020

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