Defectos congénitos

Buscan estandarizar interpretación de hallazgos genómicos

0

2017 02 24 AJHGInterVar es una herramienta que busca facilitar la interpretación del significado clínico de las variantes genómicas en las enfermedades humanas, particularmente los trastornos del desarrollo de inicio temprano y penetrancia alta. Su descripción y validación aparecen en Li Q, Wang K. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. AJHG 2017; DOI: http://dx.doi.org/10.1016/j.ajhg.2017.01.004.

Filed under Bases de datos, Calidad, Defectos congénitos, Diagnóstico, Medicina personalizada, Polimorfismos by on . Comment. #

Aplicaciones diagnósticas de las tecnologías de secuenciación

0

– A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
– Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
– New insights into the generation and role of de novo mutations in health and disease
– Characterizing the morbid genome of ciliopathies
– Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
– Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Filed under Defectos congénitos, Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . Comment. #

Estudios de asociación genética

0

– Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
– KLB is associated with alcohol drinking, and its gene product ß-Klotho is necessary for FGF21 regulation of alcohol preference
– RIT1: un nuevo gen causal del síndrome de Noonan
– Titin-truncating variants affect heart function in disease cohorts and the general population
– Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes

Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Neurología, Polimorfismos by on . Comment. #

Avances del diagnóstico genómico fetal no invasivo

0

K. C. Allen Chan. PNAS 2016

Un proceder de secuenciación de segunda generación para ADN plasmático identificó una mutación de novo en BRAF en un feto con síndrome cardiofaciocutáneo, según se reporta en Chan KCA, Jiang P, Sun K, Cheng YKY, Tong YK, Chen SH, et al. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. PNAS 2016; doi: 10.1073/pnas.1615800113. Otro estudio revela la posibilidad de análisis del genoma fetal a partir de células trofoblásticas en muestras obtenidas por citología vaginal, en una gestación de apenas cinco semanas: Jain CV, Kadam L, van Dijk M, Kohan-Ghadr HR, Kilburn BA, Hartman C, et al. Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal. Science Translational Medicine  2016;8(363):363re4.

Filed under Defectos congénitos, Diagnóstico by on . Comment. #

Mutaciones y polimorfismos de riesgo para cardiopatías, conducta reproductiva, fragilidad cutánea y otras

0

– MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
– Genome-wide associations for birth weight and correlations with adult disease
– Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality
– Genome-wide analysis identifies 12 loci influencing human reproductive behavior
– Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Polimorfismos by on . Comment. #

Variantes de riesgo para varias enfermedades

0

2016 08 15 defectsPara la esclerosis lateral amiotrófica, cardiopatías congénitas, migraña, lupus, depresión, lea en:
– Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
– NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
– Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
– Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
– Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus
– Identification of 15 genetic loci associated with risk of major depression in individuals of European descent
– Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function

Filed under Cardiopatías, Defectos congénitos, Diagnóstico, Medicina personalizada, Neurología, Polimorfismos by on . Comment. #

Diagnósticos se definen gracias a genómica

0

Microsoft PowerPoint - Figures 1Son varios los diagnósticos definidos gracias a las tecnologías ómicas. Puede leer algunos ejemplos en:
– Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
– Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
– Molecular diagnostic experience of whole-exome sequencing in adult patients

Filed under Defectos congénitos, Diagnóstico, Medicina personalizada, Neurogenética by on . Comment. #

Utilidad de pruebas para hipoacusia

0

HearingDos artículos tratan sobre el diagnóstico genético y genómico de los trastornos auditivos:
– Wu CC, Tsai CH, Hung CC, Lin YH, Lin YH, Huang FL, et al. Newborn genetic screening for hearing impairment: a population-based longitudinal study. Genetics in Medicine 2016; doi:10.1038/gim.2016.66.
– Abou Tayoun AN, Al Turki SH, Oza AM, Bowser MJ, Hernandez AL, Funke BH, et al. Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation. Genetics in Medicine 2016;18(6):545–553.

Filed under Defectos congénitos, Diagnóstico, Genómica by on . Comment. #

Evolución de patógeno en paciente con fibrosis quística

0

2016 06 12 - CFLa evolución genómica y funcional de la infección pulmonar por Burkholderia multivorans en un enfermo de fibrosis quística durante 20 años es descrita en Silva IN, Santos PM, Santos MR, Zlosnik JEA, Speert DP, Buskirk SW, et al. Long-Term Evolution of Burkholderia multivorans during a Chronic Cystic Fibrosis Infection Reveals Shifting Forces of Selection. mSystems 2016; DOI: 10.1128/mSystems.00029-16.

Filed under Bioinformática, Defectos congénitos, Diagnóstico, Filogenética, Patógenos by on . Comment. #

1 2 3 4 5