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 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
– Biases in arginine codon usage correlate with genetic disease risk
– Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
– Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
– CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
– Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
– Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
– Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
– A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and idntification of areas for continued improvement
– 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
– 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)
– 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 – Clinical Genome Resource (ClinGen)
– Interpretation of mitochondrial tRNA variants
