Listar por tema "whole-genome sequencing"

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  • Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals 
    Naslavsky, Michel S.; Scliar, Marília O.; Nunes, Kelly; Wang, Jaqueline Y. T.; Yamamoto, Guilherme L.; Guio, Heinner; Tarazona-Santos, Eduardo; Duarte, Yeda A. O.; Passos-Bueno, Maria Rita; Meyer, Diogo; Zatz, Mayana (Wiley, 2021)
    Diagnosis of individuals affected by monogenic disorders was significantly improved by next-generation sequencing targeting clinically relevant genes. Whole exomes yield a large number of variants that require several ...
  • Mortality from drug-resistant tuberculosis in high-burden countries comparing routine drug susceptibility testing with whole-genome sequencing: a multicentre cohort study 
    Zürcher, K.; Reichmuth, M.L.; Ballif, M.; Loiseau, C.; Borrell, S.; Reinhard, M.; Skrivankova, V.; Hömke, R.; Sander, P.; Avihingsanon, A.; Abimiku, A.G.; Marcy, O.; Collantes, J.; Carter, E.J.; Wilkinson, R.J.; Cox, H.; Yotebieng, M.; Huebner, R.; Fenner, L.; Böttger, E.C.; Gagneux, S.; Egger, M.; International epidemiology Databases to Evaluate AIDS (Elsevier, 2021)
    Background: Drug resistance threatens global tuberculosis control. We aimed to examine mortality in patients with tuberculosis from high-burden countries, according to concordance or discordance of results from drug ...
  • Whole-Genome Characterisation of ESBL-Producing E. coli Isolated from Drinking Water and Dog Faeces from Rural Andean Households in Peru 
    Medina-Pizzali, Maria Luisa; Venkatesh, A.; Riveros Ramirez, Maribel Denise; Cuicapuza, Diego; Salmon-Mulanovich, Gabriela; Mäusezahl, Daniel; Hartinger Peña, Stella Maria (MDPI, 2022)
    E. coli that produce extended-spectrum β-lactamases (ESBLs) are major multidrug-resistant bacteria. In Peru, only a few reports have characterised the whole genome of ESBL enterobacteria. We aimed to confirm the identity ...
  • Whole-Genome Sequencing for Drug Resistance Profile Prediction in Mycobacterium tuberculosis 
    Gygli, Sebastian M.; Keller, Peter M.; Ballif, Marie; Blochliger, Nicolas; Homke, Rico; Reinhard, Miriam; Loiseau, Chloe; Ritter, Claudia; Sander, Peter; Borrell, Sonia; Collantes Loo, Jimena; Avihingsanon, Anchalee; Gnokoro, Joachim; Yotebieng, Marcel; Egger, Matthias; Gagneux, Sebastien; Bottger, Erik C. (American Society for Microbiology, 2019)
    Whole-genome sequencing allows rapid detection of drug-resistant Mycobacterium tuberculosis isolates. However, the availability of high-quality data linking quantitative phenotypic drug susceptibility testing (DST) and ...

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