{"id":2179,"date":"2026-04-25T16:23:58","date_gmt":"2026-04-25T16:23:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2179"},"modified":"2026-04-25T16:23:58","modified_gmt":"2026-04-25T16:23:58","slug":"vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/","title":{"rendered":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)"},"content":{"rendered":"

Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated a test using that evaluates a large (291 kb) inversion found within the VHL<\/em> gene in patients. Validation results achieved 100% match.\u00a0 This report demonstrates that specialized methodologies are essential for managing hereditary diseases and promoting early symptom detection. Our test allows for greater confidence in diagnosis for families dealing with large structural alterations and may aid in future efforts at corrective therapies to ease patient suffering. Work was performed in a Clinical Laboratory Improvement Amendments-certified laboratory (CLIA ID # 21D0947274). (https:\/\/jmg.bmj.com\/content\/early\/2026\/04\/24\/jmg-2026-111493<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated […]<\/p>\n

Read More…<\/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-2179","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nVHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - 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\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-04-25T16:23:58+00:00\" \/>\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\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)\",\"datePublished\":\"2026-04-25T16:23:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/\"},\"wordCount\":158,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/\",\"name\":\"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2026-04-25T16:23:58+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/04\\\/25\\\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - 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\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/","og_locale":"en_US","og_type":"article","og_title":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - JMG Contact blog","og_description":"Von Hippel-Lindau (VHL) syndrome is a disorder that puts patients at increased risk of developing benign and malignant tumors within various organs. While current genetic tests demonstrate successful detection of minor mutations, large structural rearrangements of the genome are undetectable by existing tests, indicating need for custom test to confirm these large alterations. We validated [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/","og_site_name":"JMG Contact blog","article_published_time":"2026-04-25T16:23:58+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)","datePublished":"2026-04-25T16:23:58+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/"},"wordCount":158,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/","url":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/","name":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2026-04-25T16:23:58+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/04\/25\/vhl-gene-fragment-analysis-large-inversion-detection-in-alu-region-for-clinical-applications-contributed-by-ryan-baugher\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2179","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=2179"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2179\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2179"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2179"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2179"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}