Las aplicaciones de la genómica unicelular (del inglés single-cell genomics) en el diagnóstico y tratamiento de las enfermedades genéticas, el cáncer, la anotación del genoma no codificante y la definición de prioridades para las variantes, son discutidas en Sreenivasan VKA, Balachandran S, Spielmann M. The role of single-cell genomics in human genetics. J Med Genet. 2022 Sep;59(9):827-839.
Filed under Cáncer, Diagnóstico, Genómica, Polimorfismos by on . Comment.
– 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.
Filed under Diagnóstico, Genómica, Patógenos, Publicaciones by on . Comment.
Los cambios en el transcriptoma y el epigenoma que tienen lugar en los cardiomiocitos tras el daño isquémico, en la reparación y la remodelación del tejido, son incorporados en un mapa que uede ser de utilidad para estudios fisiopatológicos y terapéuticos. El modelo aparece en Kuppe C, Ramirez RO, Li Z, Hayat S, Levinson RT, Liao X, et al. Spatial multi-omic map of human myocardial infarction. Nature, 2022; https://www.nature.com/articles/s41586-022-05060-x
Filed under Biología de sistemas, Cardiopatías, Transcriptómica by on . Comment.
– A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am J Hum Genet, 2022; https://doi.org/10.1016/j.ajhg.2022.08.003.
– Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward. Front Genet. 2022; 13: 865400.
– Precision Medicine via the Integration of Phenotype-Genotype Information in Neonatal Genome Project. Fundamental Research; https://doi.org/10.1016/j.fmre.2022.07.003.
Filed under Diagnóstico, Genómica, Medicina personalizada by on . Comment.
Un atlas de la retina, basado en la expresión de genes y la accesibilidad de la cromatina, caracteriza 13 tipos celulares y prioriza a los polimorfismos no codificantes en el riesgo de enfermedades oculares. El reporte es Wang SK, Nair SM, Li R, Kraft K, Pampari A, Patel A, et al. Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases. Cell Genomics, 2022; DOI:https://doi.org/10.1016/j.xgen.2022.100164.
Filed under Diagnóstico, Genómica, Transcriptómica by on . Comment.
– 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.
Filed under Diagnóstico, Patógenos by on . Comment.
La secuenciación de genoma completo es el examen de elección para el diagnóstico de enfermedades de herencia mendeliana, pero sus costos superan los de la secuenciación del exoma. La elección de uno u otro depende del escenario clínico y la disponibilidad de recursos. Así se comenta en Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. European Journal of Human Genetics, 2022; https://doi.org/10.1038/s41431-022-01162-2
Filed under Diagnóstico, Genómica, Medicina personalizada by on . Comment.
– Genomic Profiling of Bronchoalveolar Lavage Fluid in Lung Cancer. Cancer Res, 2022;82(16):2838–2847.
– Changes in Circulating Tumor DNA Reflect Clinical Benefit Across Multiple Studies of Patients With Non–Small-Cell Lung Cancer Treated With Immune Checkpoint Inhibitors. JCO Precision Oncology, 2022;6:e2100372.
– Genomic Profiling for Clinical Decision Making in Lymphoid Neoplasms. Blood. 2022 Aug 24; doi: 10.1182/blood.2022015854.
Filed under Cáncer, Diagnóstico, Genómica by on . Comment.
– Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program. Cell Genomics, 2022; https://doi.org/10.1016/j.xgen.2022.100155
– Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians. Annals of Internal Medicine, 2022; doi: 10.7326/M22-0743.
– Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities. Public Health Genomics. 2022 Aug 23;1-9.
Filed under Bioética, Medicina personalizada by on . Comment.
– Pandemic-Scale Phylogenomics Reveals The SARS-CoV-2 Recombination Landscape. Nature, 2022; https://doi.org/10.1038/s41586-022-05189-9
– Genome-wide bidirectional CRISPR screens identify mucins as host factors modulating SARS-CoV-2 infection. Nature Genetics, 2022;54:1078–1089.
Filed under covid-19, Edición del genoma by on . Comment.
Disponible la versión digital del libro "Cuba indígena hoy: rostros y ADN"
(Nota en CubaDebate)
