{"id":2037,"date":"2025-01-14T17:56:12","date_gmt":"2025-01-14T17:56:12","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2037"},"modified":"2026-02-22T01:20:48","modified_gmt":"2026-02-22T01:20:48","slug":"retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\/","title":{"rendered":"Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek)"},"content":{"rendered":"

Genetic tests currently used in routine diagnostics are designed to detect almost all types of genetic aberrations that may cause disease. However, in some cases, aberrations can be detected, but remain partly unresolved: e.g., the detection of a large duplication often does not entail information on its point of insertion in the genome, which could be crucial to determine its pathogenicity. This study describes an effective diagnostic pipeline aimed at solving these and similar cases, leveraging optical genome mapping (OGM). It describes OGM as a follow-up method for characterizing aberrations difficult to resolve otherwise, adding clinically relevant information. (https:\/\/jmg.bmj.com\/content\/early\/2024\/12\/09\/jmg-2024-110265<\/a> )<\/p>\n

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Genetic tests currently used in routine diagnostics are designed to detect almost all types of genetic aberrations that may cause disease. However, in some cases, aberrations can be detected, but remain partly unresolved: e.g., the detection of a large duplication often does not entail information on its point of insertion in the genome, which could […]<\/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-2037","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nRetrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek) - 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\/2025\/01\/14\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genetic tests currently used in routine diagnostics are designed to detect almost all types of genetic aberrations that may cause disease. However, in some cases, aberrations can be detected, but remain partly unresolved: e.g., the detection of a large duplication often does not entail information on its point of insertion in the genome, which could [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-01-14T17:56:12+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:20:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"776\" \/>\n\t<meta property=\"og:image:height\" content=\"771\" \/>\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\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek)\",\"datePublished\":\"2025-01-14T17:56:12+00:00\",\"dateModified\":\"2026-02-22T01:20:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2025\\\/01\\\/Untitled-1-300x298.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/retrospective-study-on-the-utility-of-optical-genome-mapping-as-a-follow-up-method-in-genetic-diagnostics\\\/\",\"name\":\"Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek) - 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