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Mutation detection

Performance of GenoType MTBDRsl assay for detection of second-line drugs and ethambutol resistance directly from sputum specimens of MDR-TB patients in Bangladesh

S. M. Mazidur Rahman, Rumana Nasrin, Arfatur Rahman, Shahriar Ahmed, Razia Khatun, Mohammad Khaja Mafij Uddin, Md. Mojibur Rahman, Sayera Banu

published 16 Dec 2021

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CD8+ cell somatic mutations in multiple sclerosis patients and controls—Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies

Miko Valori, Lilja Jansson, Pentti J. Tienari

published 07 Dec 2021

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Mutational landscape of SARS-CoV-2 genome in Turkey and impact of mutations on spike protein structure

Ozden Hatirnaz Ng, Sezer Akyoney, Ilayda Sahin, Huseyin Okan Soykam, Gunseli Bayram Akcapinar, Ozkan Ozdemir, Derya Dilek Kancagi, Gozde Sir Karakus, Bulut Yurtsever, Ayse Sesin Kocagoz, Ercument Ovali, Ugur Ozbek

published 06 Dec 2021

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Nanopore metagenomic sequencing for detection and characterization of SARS-CoV-2 in clinical samples

Nick P. G. Gauthier, Cassidy Nelson, Michael B. Bonsall, Kerstin Locher, Marthe Charles, Clayton MacDonald, Mel Krajden, Samuel D. Chorlton, Amee R. Manges

published 18 Nov 2021

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Rifampicin and isoniazid drug resistance among patients diagnosed with pulmonary tuberculosis in southwestern Uganda

Lisa Nkatha Micheni, Kennedy Kassaza, Hellen Kinyi, Ibrahim Ntulume, Joel Bazira

published 29 Oct 2021

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A novel xenonucleic acid-mediated molecular clamping technology for early colorectal cancer screening

Qing Sun, Larry Pastor, Jinwei Du, Michael J. Powell, Aiguo Zhang, Walter Bodmer, Jianzhong Wu, Shu Zheng, Michael Y. Sha

published 05 Oct 2021

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Large-scale analysis of SARS-CoV-2 spike-glycoprotein mutants demonstrates the need for continuous screening of virus isolates

Barbara Schrörs, Pablo Riesgo-Ferreiro, Patrick Sorn, Ranganath Gudimella, Thomas Bukur, Thomas Rösler, Martin Löwer, Ugur Sahin

published 27 Sep 2021

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Detection of six novel de novo mutations in individuals with low resilience to psychological stress

Esfandiar Azadmarzabadi, Arvin Haghighatfard

published 07 Sep 2021

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Food insecurity, drug resistance and non-disclosure are associated with virologic non-suppression among HIV pregnant women on antiretroviral treatment

Bhavna H. Chohan, Keshet Ronen, Brian Khasimwa, Daniel Matemo, Lusi Osborn, Jennifer A. Unger, Alison L. Drake, Ingrid A. Beck, Lisa M. Frenkel, John Kinuthia, Grace John-Stewart

published 18 Aug 2021

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Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

Evie Kritioti, Athina Theodosiou, Thibaud Parpaite, Angelos Alexandrou, Nayia Nicolaou, Ioannis Papaevripidou, Nina Séjourné, Bertrand Coste, Violetta Christophidou-Anastasiadou, George A. Tanteles, Carolina Sismani

published 29 Jul 2021

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SARS-CoV-2 variant evolution in the United States: High accumulation of viral mutations over time likely through serial Founder Events and mutational bursts

Rafail Nikolaos Tasakis, Georgios Samaras, Anna Jamison, Michelle Lee, Alexandra Paulus, Gabrielle Whitehouse, Laurent Verkoczy, F. Nina Papavasiliou, Marilyn Diaz

published 23 Jul 2021

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Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history

Fatiha Salmi, Fatima Maachi, Amal Tazzite, Rachid Aboutaib, Jamal Fekkak, Houssine Azeddoug, Hassan Jouhadi

published 09 Jul 2021

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A new sensitive and fast assay for the detection of EGFR mutations in liquid biopsies

Steffen Grann Jensen, Samantha Epistolio, Cesilie Lind Madsen, Majbritt Hauge Kyneb, Alice Riva, Alessia Paganotti, Jessica Barizzi, Rasmus Koefoed Petersen, Michael Børgesen, Francesca Molinari, Renzo Boldorini, Jan Lorenzen, Erik Sørensen, Ulf Bech Christensen, Estrid Høgdall, Milo Frattini

published 24 Jun 2021

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