– Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
– Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
– Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
Filed under Polimorfismos by on . Comment.
– 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.
– Cribado neonatal genómico. Perspectiva de la Comisión de ética de la Asociación Española de Genética Humana. Parte I. Las tecnologías de secuenciación masiva (NGS) y su aplicación al cribado neonatal. Desafíos y oportunidades
– Ethical, anticipatory genomics research on human behavior means celebrating disagreement
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.
– 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.
Los polimorfismos en los receptores olfatorios no solo afectan la percepción de los olores sino también su intensidad, al tiempo que la diversidad del repertorio genético olfatorio parece haber degenerado en los primates. Así se reporta en Li B, Kamarck ML, Peng Q, Lim FL, Keller A, MAM Smeets, et al. From musk to body odor: Decoding olfaction through genetic variation. PLoS Genet, 2022;18(2):e1009564.
Filed under Polimorfismos by on . Comment.
Los avances aportados por las tecnologías ómicas, entre otras innovaciones, han permitido vivir una intensa década de caracterización de tipos celulares y el desarrollo de atlas a nivel molecular. La evolución y estado actual son revisados en Quake SR. A decade of molecular cell atlases. Trends in Genetics, 2022; DOI: https://doi.org/10.1016/j.tig.2022.01.004.
Filed under Bioinformática, Biología de sistemas by on . Comment.
– Genomics and Newborn Screening: Perspectives of Public Health Programs
– Establishing Newborn Screening for SCID in the USA: Experience in California
– Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing
– Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
Filed under Diagnóstico, Medicina personalizada by on . Comment.
Disponible la versión digital del libro "Cuba indígena hoy: rostros y ADN"
(Nota en CubaDebate)
