{"id":1702,"date":"2022-02-09T02:33:37","date_gmt":"2022-02-09T02:33:37","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1702"},"modified":"2026-02-23T01:04:52","modified_gmt":"2026-02-23T01:04:52","slug":"rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/","title":{"rendered":"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai)"},"content":{"rendered":"<p>Routinely used Whole Exome Sequencing (WES) in genetic diagnosis for monogenic disorders revealed numerous variants of uncertain significance (VUSs), which poses considerable problems for genetic counselling and clinical management. In fact, many disease-causing variants have been reported to resulting in aberrant gene splicing. Therefore, for VUSs suspected to cause aberrant splicing, additional evidence can be supplemented for pathogenicity reclassification by splicing patterns assessment on RNA.<\/p>\n<p>We recruited 49 VUSs from 48 patient families and assessed the splicing patterns of the variants . Twelve variants were found to disrupt splicing function and\u00a0 reclassified as likely pathogenic variation. Based on the results obtained, couples opted for different reproductive interventions to conceive a child.<\/p>\n<p>This study highlights that RNA splicing analysis can contribute to the reclassification of a significant proportion of VUSs. It is worth for promoted application in medical practice. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/03\/jmedgenet-2021-108013\">https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/03\/jmedgenet-2021-108013<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/picture-for-blog\/\" rel=\"attachment wp-att-1703\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1703\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-300x226.jpg\" alt=\"\" width=\"300\" height=\"226\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-300x226.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-1024x771.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-768x578.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-1536x1156.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-2048x1541.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog-640x482.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Routinely used Whole Exome Sequencing (WES) in genetic diagnosis for monogenic disorders revealed numerous variants of uncertain significance (VUSs), which poses considerable problems for genetic counselling and clinical management. In fact, many disease-causing variants have been reported to resulting in aberrant gene splicing. Therefore, for VUSs suspected to cause aberrant splicing, additional evidence can be [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1702","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Routinely used Whole Exome Sequencing (WES) in genetic diagnosis for monogenic disorders revealed numerous variants of uncertain significance (VUSs), which poses considerable problems for genetic counselling and clinical management. In fact, many disease-causing variants have been reported to resulting in aberrant gene splicing. Therefore, for VUSs suspected to cause aberrant splicing, additional evidence can be [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-09T02:33:37+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:04:52+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/picture-for-blog.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2126\" \/>\n\t<meta property=\"og:image:height\" content=\"1600\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai)\",\"datePublished\":\"2022-02-09T02:33:37+00:00\",\"dateModified\":\"2026-02-23T01:04:52+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/\"},\"wordCount\":165,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/02\\\/picture-for-blog-300x226.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/09\\\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\\\/\",\"name\":\"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/09\/rna-splicing-analysis-contributes-to-reclassifying-variants-of-uncertain-significance-and-improves-the-diagnosis-of-monogenic-disorders\/","og_locale":"en_US","og_type":"article","og_title":"RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders (Contributed by Dr. Congling Dai) - JMG Contact blog","og_description":"Routinely used Whole Exome Sequencing (WES) in genetic diagnosis for monogenic disorders revealed numerous variants of uncertain significance (VUSs), which poses considerable problems for genetic counselling and clinical management. 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