- FUENTE: Infomed. Genética Clínica [1]
- 10 Julio 2020
Variantes Genómicas
La secuenciación de próxima generación, también llamada secuenciación de nueva generación o next-generation sequencing, impone nuevos retos a la práctica médica, y especialmente a la Genética Clínica; interpretar sus resultados requiere de la capacidad integrarlos a la atención de los pacientes.
El sitio web cubano de Genética Clínica [3]recomienda la lectura de los siguientes artículos sobre tan importante y actual tema:
- Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses [4]
- Biases in arginine codon usage correlate with genetic disease risk [5]
- [5]Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2 [6]
- [5]Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis [7]
- [5]CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [8]
- [5]Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq [9]
- [5]Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) [10]
- [5]Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance [11]
- [5]A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and idntification of areas for continued improvement [12]
- [5]Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [12]
- [5]Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC) [13]
- [5]Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the [14]- [5]Clinical Genome Resource (ClinGen) [14]
- [5]Interpretation of mitochondrial tRNA variants [15]
Palabras clave: Variaantes, Genómicas, Genetica