Patógenos

Aplicaciones ómicas en la microbiología

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– The Human “Contaminome” and Understanding Infectious Disease. N Engl J Med 2022;387:943-946.
– Integrating genomic and epidemiologic data to accelerate progress toward schistosomiasis elimination. eLife, 2022; https://doi.org/10.7554/eLife.79320
– Next Generation and Other Sequencing Technologies in Diagnostic Microbiology and Infectious Diseases. Genes 2022;13(9):1566.

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Disponibles reportes de OMS sobre genómica

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– Global genomic surveillance strategy for pathogens with pandemic and epidemic potential, 2022–2032. Geneva: World Health Organization; 2022.
– Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues. A report of the WHO Science Council. Geneva: World Health Organization; 2022.

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Diagnóstico genómico de infecciones: histoplasma, neumococo

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– Case Report and Literature Review: Disseminated Histoplasmosis Infection Diagnosed by Metagenomic Next-Generation Sequencing. Infection and Drug Resistance, 2022;15:4507—4514.
– Emergence of a multidrug-resistant and virulent Streptococcus pneumoniae lineage mediates serotype replacement after PCV13: an international whole-genome sequencing study. The Lancet Microbe, 2022; https://doi.org/10.1016/S2666-5247(22)00158-6.

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Estudian sífilis endémica en Cuba

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El análisis de aislamientos, en pacientes cubanos, del genoma del Treponema pallidum subsp. endemicum, agente causal del bejel o sífilis endémica, ha revelado evidencias que sugieren una infección persistente, más que un brote a partir de un caso importado, de acuerdo con Vrbová E, Noda AA, Grillová L, Rodríguez I, Forsyth A, Oppelt J, et al. Whole genome sequences of Treponema pallidum subsp. endemicum isolated from Cuban patients: The non-clonal character of isolates suggests a persistent human infection rather than a single outbreak. PLoS Negl Trop Dis. 2022 Jun 10;16(6):e0009900.

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Variantes y asociaciones: enfermedad renal, leucemia, cáncer de pulmón, Alzheimer, hepatitis C

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– Genome-wide association studies identify the role of caspase-9 in kidney disease
– Genome-wide association study identifies susceptibility loci for acute myeloid leukemia
– Identification of genetic variations associated with drug resistance in non-small cell lung cancer patients undergoing systemic treatment
– Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics
– Genome-wide association study reveals genetic variants associated with HIV-1C infection in a Botswana study population

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Covid-19: más sobre influencias genéticas

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Tres metanálisis de estudios de asociación de genoma completo, que consideraron 49562 pacientes de 19 países, encontraron 13 loci relacionados con la infección y formas graves de la covid-19. Otros elementos son presentados en COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021; https://doi.org/10.1038/s41586-021-03767-x.

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Transcriptómica identifica fármacos con acción anti-SARS-CoV-2

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Transcriptomics1El haloperidol y la clofazimina están entre los 11 medicamentos con actividad antiviral frente a SARS-CoV-2, a partir de las diferencias en los patrones de expresión génica entre muestras de infectados y controles. El reporte aparece en Le BL, Andreoletti G, Oskotsky T, Vallejo-Gracia A, Rosales R, Yu K, et al. Transcriptomics-based drug repositioning pipeline identifies therapeutic candidates for COVID-19. Scientific Reports 2021;11:12310.

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