{"id":2049,"date":"2025-03-06T14:53:05","date_gmt":"2025-03-06T14:53:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2049"},"modified":"2026-02-22T01:16:17","modified_gmt":"2026-02-22T01:16:17","slug":"advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/03\/06\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\/","title":{"rendered":"Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback)"},"content":{"rendered":"

Analyzing patient genetic data can be time-consuming, often requiring hours of work with no conclusive results\u2014especially in complex and rare cases. Our study explores gene prioritization with Exomiser to improve variant analysis in a cohort of unsolved cases lacking relative data for variant segregation.<\/p>\n

By benchmarking its accuracy, we confirmed its effectiveness in identifying causative variants, including novel discoveries. We further streamlined the analysis process by optimizing use of phenotype descriptions and summarizing prioritization result data across the cohort.<\/p>\n

This semi-automated approach accelerates molecular diagnosis and provides a standardized method for analyzing variant data in complex and rare cases. (https:\/\/jmg.bmj.com\/content\/early\/2025\/03\/05\/jmg-2024-110212<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Analyzing patient genetic data can be time-consuming, often requiring hours of work with no conclusive results\u2014especially in complex and rare cases. Our study explores gene prioritization with Exomiser to improve variant analysis in a cohort of unsolved cases lacking relative data for variant segregation. By benchmarking its accuracy, we confirmed its effectiveness in identifying causative […]<\/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-2049","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nAdvancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback) - 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\/03\/06\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Analyzing patient genetic data can be time-consuming, often requiring hours of work with no conclusive results\u2014especially in complex and rare cases. Our study explores gene prioritization with Exomiser to improve variant analysis in a cohort of unsolved cases lacking relative data for variant segregation. By benchmarking its accuracy, we confirmed its effectiveness in identifying causative [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/03\/06\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-03-06T14:53:05+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:16:17+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\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback)\",\"datePublished\":\"2025-03-06T14:53:05+00:00\",\"dateModified\":\"2026-02-22T01:16:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/\"},\"wordCount\":120,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/03\\\/06\\\/advancing-molecular-diagnosis-in-rare-skeletal-muscle-diseases\\\/\",\"name\":\"Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases (Contributed by Victoria Lillback) - 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