– Returning integrated genomic risk and clinical recommendations: The eMERGE study
– The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
– Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Filed under Diagnóstico, Polimorfismos, Publicaciones by on . Comment.
– Genomics in Clinical Practice
– Personalized medicine is having its day
– Genomic–transcriptomic evolution in lung cancer and metastasis
– Genomic profiling to expand precision cancer medicine in the real world: The ROME trial
– On the gene expression landscape of cancer
– Precision Medicine in Type 1 Diabetes
– 2023 Watch List: Top 10 Precision Medicine Technologies and Issues
Filed under Cáncer, Genómica, Medicina personalizada, Transcriptómica by on . Comment.
Un editorial aparecido en The Lancet insiste en la necesidad de desarrollar estándares globales para la gobernanza y vigilancia de la edición del genoma humano, a propósito de la Tercera Cumbre Internacional sobre el tema. Lea Human genome editing: ensuring responsible research. The Lancet, 2023;401(10380):877.
Filed under Bioética, Edición del genoma, Tratamientos by on . Comment.
– Impact of pharmacogenetics on aspirin resistance: a systematic review
– The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
– Integration of pharmacogenomic and pharmacomicrobiomic data for personalized medicine
– Towards precision medicine for anxiety disorders: objective assessment, risk prediction, pharmacogenomics, and repurposed drugs
– Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants
Filed under Farmacogenómica, Medicina personalizada, Microbioma, Polimorfismos, Tratamientos by on . Comment.
– Blood-Based mRNA Tests as Emerging Diagnostic Tools for Personalised Medicine in Breast Cancer
– Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
– The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy
– Systematic assessment of prognostic molecular features across cancers
– Landscape of pathogenic mutations in premature ovarian insufficiency
– Circulating Tumor DNA Is Prognostic in Intermediate-Risk Rhabdomyosarcoma: A Report From the Children’s Oncology Group
– Exome/Genome Sequencing in Undiagnosed Syndromes
– Precision Medicine and the future of Cardiovascular Diseases: A Clinically Oriented Comprehensive Review
Filed under Cáncer, Cardiopatías, Diagnóstico by on . Comment.
Con el seguimiento a dos muestras del proyecto All of Us se determinó que las lecturas largas en la secuenciación del genoma producen los resultados más precisos. Otros resultados son comentados en Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, Handsaker RE, et al. Utility of long-read sequencing for All of Us. BioRXiv, 2023.
Filed under Bioinformática, Genómica by on . Comment.