{"id":1563,"date":"2020-10-18T00:12:37","date_gmt":"2020-10-18T00:12:37","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1563"},"modified":"2026-02-23T23:37:19","modified_gmt":"2026-02-23T23:37:19","slug":"targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/18\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\/","title":{"rendered":"Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (Contributed by Dr. Yu Teranishi)"},"content":{"rendered":"<p>Although 60% of de novo Neurofibromatosis type 2 (NF2) patients are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting <em>NF2<\/em> variants with low variant allele frequency. We have improved the diagnostic rate of mosaic NF2 by targeted deep sequencing of DNA from multiple tissues. Furthermore, we found that the highly diverse phenotype of NF2 could be resulting not only from the germline <em>NF2<\/em> mutation type and location, but also the extent of VAF in the <em>NF2<\/em> variant within normal tissue DNA. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/10\/16\/jmedgenet-2020-106973\">https:\/\/jmg.bmj.com\/content\/early\/2020\/10\/16\/jmedgenet-2020-106973<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/18\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\/20200608-fig-1\/\" rel=\"attachment wp-att-1564\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1564\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/20200608-Fig.-1-279x300.jpg\" alt=\"\" width=\"279\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/20200608-Fig.-1-279x300.jpg 279w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/20200608-Fig.-1.jpg 480w\" sizes=\"auto, (max-width: 279px) 100vw, 279px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Although 60% of de novo Neurofibromatosis type 2 (NF2) patients are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency. We have improved the diagnostic rate of mosaic NF2 by targeted deep sequencing [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/18\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\/\">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-1563","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>Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (Contributed by Dr. Yu Teranishi) - 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\/2020\/10\/18\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (Contributed by Dr. Yu Teranishi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Although 60% of de novo Neurofibromatosis type 2 (NF2) patients are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency. We have improved the diagnostic rate of mosaic NF2 by targeted deep sequencing [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/10\/18\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-10-18T00:12:37+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:37:19+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/10\/20200608-Fig.-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"480\" \/>\n\t<meta property=\"og:image:height\" content=\"516\" \/>\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\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (Contributed by Dr. Yu Teranishi)\",\"datePublished\":\"2020-10-18T00:12:37+00:00\",\"dateModified\":\"2026-02-23T23:37:19+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/10\\\/20200608-Fig.-1-279x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/10\\\/18\\\/targeted-deep-sequencing-of-dna-from-multiple-tissue-types-improves-the-diagnostic-rate-and-reveals-a-highly-diverse-phenotype-of-mosaic-neurofibromatosis-type-2\\\/\",\"name\":\"Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 (Contributed by Dr. Yu Teranishi) - 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