{"id":10222,"date":"2020-07-10T04:00:19","date_gmt":"2020-07-10T04:00:19","guid":{"rendered":"http:\/\/contenidosportal.sld.cu\/portal20142020\/?p=5268"},"modified":"2020-07-10T04:00:19","modified_gmt":"2020-07-10T04:00:19","slug":"articulos-sobre-interpretacion-de-variantes-genomicas","status":"publish","type":"post","link":"https:\/\/contenidosportal.sld.cu\/portal20142020\/2020\/07\/10\/articulos-sobre-interpretacion-de-variantes-genomicas\/","title":{"rendered":"Art\u00edculos sobre interpretaci\u00f3n de variantes gen\u00f3micas"},"content":{"rendered":"
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La secuenciación de próxima generación, también llamada secuenciación de nueva generación o next-generation sequencing<\/em>, 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.<\/p>\n

El sitio web cubano de Genética Clínica <\/a>recomienda la lectura de los siguientes artículos sobre tan importante y actual tema:<\/p>\n

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

<\/div>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"close","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[],"class_list":["post-10222","post","type-post","status-publish","format-standard","hentry","category-anuncio"],"_links":{"self":[{"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/posts\/10222","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/comments?post=10222"}],"version-history":[{"count":0,"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/posts\/10222\/revisions"}],"wp:attachment":[{"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/media?parent=10222"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/categories?post=10222"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/contenidosportal.sld.cu\/portal20142020\/wp-json\/wp\/v2\/tags?post=10222"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}