Farmacogenética: clopidogrel, informes de laboratorio, América Latina

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– Dosage optimization of clopidogrel via a precision medicine approach: the way forward
– Automated Pharmacogenomic Reports for Clinical Genome Sequencing
– Pharmacogenetics and Pharmacogenomics in Latin America: Ethnic Variability, New Insights in Advances and Perspectives: A RELIVAF-CYTED Initiative
– Editorial: Pharmacogenetics and Pharmacogenomics in Latin America: Ethnic Variability, New Insights in Advances and Perspectives: A RELIVAF-CYTED Initiative
– Pharmacogenetic differentiation across Latin America
– Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Filed under Farmacogenómica by on . Comment. #

Utilidad diagnóstica de la secuenciación del exoma

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Los trastornos del neurodesarrollo, incluidos los cuadros convulsivos, fueron los más beneficiados con un diagnóstico en el estudio de 700 niños por medio de la secuenciación clínica del exoma. Otros hallazgos y consideraciones aparecen en Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, et al. Molecular diagnostic outcomes from 700 cases: What can we learn from a retrospective analysis of clinical exome sequencing? The Journal of Molecular Diagnostics, 2022; https://doi.org/10.1016/j.jmoldx.2021.12.002.

Filed under Diagnóstico, Neurogenética, Neurología by on . Comment. #

Ómicas y cáncer: metástasis, asociaciones tumorales, docencia

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– Genomic characterization of metastatic patterns from prospective clinical sequencing of 25,000 patients
– Clinical Utility of Genomic Testing in Cancer Care
– Biología de sistemas y computacional en cáncer: de lo básico a la próxima frontera
– Genetic and genomic learning needs of oncologists and oncology nurses in the era of precision medicine: a scoping review
– Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes
– Single whole genome sequencing analysis blazes the trail for precision medicine

Filed under Biología de sistemas, Cáncer, Diagnóstico, Genómica, Medicina personalizada by on . Comment. #

Por la integración de la inteligencia artificial a la medicina genómica

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La inteligencia artificial, sobre todo el aprendizaje automático y el aprendizaje profundo, puede impulsar el desarrollo de la medicina genómica, no solo en el análisis de datos. Ese es el tema en Gulfidan G, Beklen H, Arga KY. Artificial Intelligence as Accelerator for Genomic Medicine and Planetary Health. OMICS: A Journal of Integrative Biology, 2021;25(12).

Filed under Algoritmos, Bases de datos, Bioinformática, Medicina personalizada by on . Comment. #

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