- Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations
– 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer
– Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
– Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population
Filed under Cáncer, Diagnóstico, Neurología, Polimorfismos by on . Comment.
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
– The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
– Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability
– Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
– Functional validity, role, and implications of heavy alcohol consumption genetic loci
Filed under Cardiopatías, Diagnóstico, Genómica, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
Un estudio de asociación proteómica ha identificado al menos 38 proteínas que no se relacionan con trastornos neurológicos y se asocian con la trayectoria cognitiva de adultos mayores. Los detalles son divulgados en Wingo AP, Dammer EB, Breen MS, Logsdon BA, Duong DM, Troncosco JC, et al. Large-scale proteomic analysis of human brain identifies proteins associated with cognitive trajectory in advanced age. Nature Communications 2019;10:1619.
Filed under Diagnóstico, Neurología, Proteómica by on . Comment.
Las tecnologías ómicas revelan nuevas relaciones en el neurodesarrollo y las enfermedades neuropsiquiátricas, según Li M, Santpere G, Kawasawa YI, Evgrafov OV, Gulden FO, Pochareddy S, et al. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science, 2018;362(6420):eaat7615.
También, en la identificación de genes implicados en esas enfermedades, de acuedo con Wang D, Liu S, Warrell J, Won H, Shi X, Navarro FCP, et al. Comprehensive functional genomic resource and integrative model for the human brain. Science, 2018;362(6420):eaat8464.
Filed under Diagnóstico, Neurogenética, Neurología by on . Comment.
- Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. Nature Communications 2018;9:5271.
- Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Human Genetics 2018;(18)30405-1.
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nature Communications 2018;9:5269 (2018)
Filed under Cáncer, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment.
Las evidencias que relacionan las variantes de genes para la esclerosis lateral amiotrófica, recientemente identificados (TBK1, CHCHD10, TUBA4A, CCNF, MATR3, NEK1, C21orf2, ANXA11, TIA1), con la demencia frontotemporal, y las oportunidades para nuevas terapias, son los temas de la revisión Nguyen HP, Van Broeckhoven C, van der Zee J. ALS Genes in the Genomic Era and their Implications for FTD. Trends in Genetics June 2018;34(6):404–423.
Filed under Diagnóstico, Neurología, Polimorfismos by on . Comment.
- Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
– Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience
– Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
– Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
– A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
Filed under Cáncer, Diagnóstico, Neurogenética, Neurología by on . Comment.
Dos metodologías de secuenciación fueron aplicadas a más de 60 000 células de tres regiones del sistema nervioso central y mostraron la expresión diferenciada de factores de transcripción, otros elementos reguladores y variantes de riesgo en diversos tipos celulares del cerebro humano. Lea el reporte completo en Lake BB, Chen S, Sos BC, Fan J, Kaeser GE, Yung YC, et al. Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain. Nature Biotechnology 2017; doi:10.1038/nbt.4038.
Filed under Diagnóstico, Genómica, Neurogenética, Neurología, Polimorfismos by on . Comment.
- Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
– The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
– Functional precision cancer medicine—moving beyond pure genomics
– A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology
Filed under Diagnóstico, Medicina personalizada, Neurogenética, Neurología, Polimorfismos by on . Comment.
Disponible desde el 26 de junio de 2010. Editado por: Dr. Orlando R. Serrano Barrera, MSc.
Órgano oficial de la Cátedra Multidisciplinaria de Medicina Genómica. Hospital General Docente Dr. Ernesto Guevara, Universidad de Ciencias Médicas de Las Tunas, Cuba. orlandosb@infomed.sld.cu orlandorsb@gmail.com
