{"id":8462,"date":"2016-05-05T11:00:08","date_gmt":"2016-05-05T11:00:08","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/biobanking\/?p=8462"},"modified":"2016-05-05T11:00:08","modified_gmt":"2016-05-05T11:00:08","slug":"ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/","title":{"rendered":"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg\" style=\"float: left;margin: 10px\" alt=\"DNA sequence. Image: Gio.tto\/Shutterstock.com\" width=\"330\" height=\"185\" \/>Ehlers-Danlos syndrome (EDS) is a group of heritable&nbsp;disorders in which collagen synthesis and fibril formation&nbsp;is disrupted. Consequently, individuals experience&nbsp;articular hypermobility,&nbsp;lax joints, and fragile tissue, skin, and blood vessels (depending on the subtype). These symptoms can<span class=\"thread\">&nbsp;lead to significant disability<\/span>. EDS is transmitted&nbsp;through autosomal-dominant, autosomal-recessive or x-linked inheritance. Desai at al. (2016)&nbsp;performed a genomic analysis of a family with autosomal-dominant inheritance&nbsp;EDS to identify the mutation&nbsp;that causes the dermatosparaxis EDS classification (type VII C)<strong>.<\/strong><sup>1<\/sup><\/p>\n<p>The investigators identified the family through a&nbsp;systematic&nbsp;data query of de-identified electronic medical records from&nbsp;over 80,000 individuals recruited to a biorepository over a six-year period as part of a project called &#8220;<span class=\"thread\">A Study of the Genetic Causes of Complex Pediatric&nbsp;Disorders.&#8221;&nbsp;<\/span>T<span class=\"thread\">his<\/span>&nbsp;study was a large-scale biorepository recruitment drive to study common and rare medical disorders at the <span class=\"thread\">Center<\/span>&nbsp;for Applied Genomics at the Children<strong>&rsquo;<\/strong>s Hospital of&nbsp;Philadelphia.<\/p>\n<p>The research team cross-referenced the biorepository with&nbsp;rare-disease&nbsp;codes (as defined by the Online Mendelian Inheritance in&nbsp;Man database and the International <span>Statistical&nbsp;Classification of Diseases and Related Health Problems<\/span> 9). In doing so, they identified a nine-year-old male child whose medical records indicated EDS and included a detailed family history and medical history for both parents. They approached the family, who consented to participate in the study and allow researchers to use<span>&nbsp;de-identified data.<\/span><\/p>\n<p>The participant&#8217;s family history indicated that he had a seven-year-old sister with evidence of EDS. Furthermore, they found evidence within his medical records that his father, paternal uncle and paternal grandmother had phenotypes that indicated EDS-like symptoms. The family history on the maternal side did not indicate EDS-like symptoms.&nbsp;Desai et al. sequenced the whole genome of the&nbsp;mother, the father and the participant. For&nbsp;validation, they performed Sanger sequencing on the affected sister and a half brother.<\/p>\n<p>The investigators were able to perform the data query and subsequent study because their broad consent protocol&nbsp;included DNA extraction,&nbsp;blood\/serum collection, access to electronic medical records, and permission to perform&nbsp;a wide range of genomic studies in consenting individuals. Their medical records are also interfaced with three laboratory information systems, meaning that they could access all laboratory results for each individual in the repository.<\/p>\n<p>Desai et al. screened the EDS patient for&nbsp;mutations in ADAMTS2, which is known to be associated with this subtype. The screen returned a negative result for this and all other known EDS-associated genes. He also had no abnormalities in his&nbsp;collagen\/procollagen screen. Nonetheless, the researchers believed that the pattern of EDS-like symptoms within his family indicated&nbsp;an inheritance pattern consistent with&nbsp;autosomal-dominant inheritance. So, when they performed a whole-genome analysis, they compared the father and the participant and found&nbsp;248,772 single nucleotide variants&nbsp;that the two shared but were not present in the mother. When the team compared these with a manual curation&nbsp;and literature survey of&nbsp;the 52 candidate loci, they discovered a mutation&nbsp;(c.1261G &gt; A, p. Gly421Ser) in the ADAMTSL2 gene. They subsequently identified this heterozygous mutation in the participant&#8217;s father and affected sister.<\/p>\n<p>This study demonstrated a successful case study of systemic data querying. Desai et al. were able to use phenotypic data and cross-reference it against disease codes to identify genetic causes of rare diseases. They note their fortunate position in having a biorepository that is part of a research and treatment hub, which provides them with a rich sample source. They note that this study has opened the door to future work to better understand the function of&nbsp;ADAMTSL2 in contributing to EDS.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Reference<\/strong><\/p>\n<p>1. Desai, A., et al. (2016) &#8220;<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26879370%20\" target=\"_blank\">Systematic data-querying of large pediatric&nbsp;biorepository identifies novel Ehlers-Danlos syndrome variant<\/a>,&#8221; BMC Musculoskeletal Disorders, 17(80).&nbsp;<span>doi: 10.1186\/s12891-016-0936-8.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ehlers-Danlos syndrome (EDS) is a group of heritable&nbsp;disorders in which collagen synthesis and fibril formation&nbsp;is disrupted. Consequently, individuals experience&nbsp;articular hypermobility,&nbsp;lax joints, and fragile tissue, skin, and blood vessels (depending on the subtype). These symptoms can&nbsp;lead to significant disability. EDS is transmitted&nbsp;through autosomal-dominant, autosomal-recessive or x-linked inheritance. Desai at al. (2016)&nbsp;performed a genomic analysis of a<\/p>\n","protected":false},"author":7,"featured_media":8460,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_kad_blocks_custom_css":"","_kad_blocks_head_custom_js":"","_kad_blocks_body_custom_js":"","_kad_blocks_footer_custom_js":"","_monsterinsights_skip_tracking":false,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[17],"tags":[273,274],"division":[],"class_list":{"0":"post-8462","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-case-studies","8":"tag-eds","9":"tag-systemic-data-query","10":"entry"},"_selected_authors":"","_selected_reviewers":"","acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.8 (Yoast SEO v27.8) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Ehlers-Danlos Syndrome: Systematic Data Querying Finds Novel Variant<\/title>\n<meta name=\"description\" content=\"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant\" \/>\n<meta property=\"og:description\" content=\"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/\" \/>\n<meta property=\"og:site_name\" content=\"Inside Biobanking\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/thermofisher\" \/>\n<meta property=\"article:published_time\" content=\"2016-05-05T11:00:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"500\" \/>\n\t<meta property=\"og:image:height\" content=\"281\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Miriam Pollak\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@thermofisher\" \/>\n<meta name=\"twitter:site\" content=\"@thermofisher\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Miriam Pollak\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/\"},\"author\":{\"name\":\"Miriam Pollak\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/#\\\/schema\\\/person\\\/4059196ff73b52bc1f07844c5f4cc833\"},\"headline\":\"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant\",\"datePublished\":\"2016-05-05T11:00:08+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/\"},\"wordCount\":664,\"commentCount\":0,\"image\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/wp-content\\\/uploads\\\/sites\\\/6\\\/2016\\\/05\\\/shutterstock_232207735-1.jpg\",\"keywords\":[\"EDS\",\"systemic data query\"],\"articleSection\":[\"Case Studies\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/\",\"url\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/\",\"name\":\"Ehlers-Danlos Syndrome: Systematic Data Querying Finds Novel Variant\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/wp-content\\\/uploads\\\/sites\\\/6\\\/2016\\\/05\\\/shutterstock_232207735-1.jpg\",\"datePublished\":\"2016-05-05T11:00:08+00:00\",\"author\":{\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/#\\\/schema\\\/person\\\/4059196ff73b52bc1f07844c5f4cc833\"},\"description\":\"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#primaryimage\",\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/wp-content\\\/uploads\\\/sites\\\/6\\\/2016\\\/05\\\/shutterstock_232207735-1.jpg\",\"contentUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/wp-content\\\/uploads\\\/sites\\\/6\\\/2016\\\/05\\\/shutterstock_232207735-1.jpg\",\"width\":500,\"height\":281,\"caption\":\"DNA sequence. Image: Gio.tto\\\/Shutterstock.com\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/biobanking\\\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/#website\",\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/\",\"name\":\"Inside Biobanking\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/biobanking\\\/#\\\/schema\\\/person\\\/4059196ff73b52bc1f07844c5f4cc833\",\"name\":\"Miriam Pollak\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g\",\"caption\":\"Miriam Pollak\"},\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/author\\\/miriampollack\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","yoast_head_json":{"title":"Ehlers-Danlos Syndrome: Systematic Data Querying Finds Novel Variant","description":"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.","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:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/","og_locale":"en_US","og_type":"article","og_title":"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant","og_description":"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.","og_url":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/","og_site_name":"Inside Biobanking","article_publisher":"https:\/\/www.facebook.com\/thermofisher","article_published_time":"2016-05-05T11:00:08+00:00","og_image":[{"width":500,"height":281,"url":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","type":"image\/jpeg"}],"author":"Miriam Pollak","twitter_card":"summary_large_image","twitter_creator":"@thermofisher","twitter_site":"@thermofisher","twitter_misc":{"Written by":"Miriam Pollak","Est. reading time":"3 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#article","isPartOf":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/"},"author":{"name":"Miriam Pollak","@id":"https:\/\/admin.acceleratingscience.com\/biobanking\/#\/schema\/person\/4059196ff73b52bc1f07844c5f4cc833"},"headline":"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant","datePublished":"2016-05-05T11:00:08+00:00","mainEntityOfPage":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/"},"wordCount":664,"commentCount":0,"image":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#primaryimage"},"thumbnailUrl":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","keywords":["EDS","systemic data query"],"articleSection":["Case Studies"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/","url":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/","name":"Ehlers-Danlos Syndrome: Systematic Data Querying Finds Novel Variant","isPartOf":{"@id":"https:\/\/admin.acceleratingscience.com\/biobanking\/#website"},"primaryImageOfPage":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#primaryimage"},"image":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#primaryimage"},"thumbnailUrl":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","datePublished":"2016-05-05T11:00:08+00:00","author":{"@id":"https:\/\/admin.acceleratingscience.com\/biobanking\/#\/schema\/person\/4059196ff73b52bc1f07844c5f4cc833"},"description":"A study of Ehlers-Danlos syndrome demonstrated a successful case study of systemic data querying, providing useful information for other rare diseases.","breadcrumb":{"@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#primaryimage","url":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","contentUrl":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","width":500,"height":281,"caption":"DNA sequence. Image: Gio.tto\/Shutterstock.com"},{"@type":"BreadcrumbList","@id":"https:\/\/www.thermofisher.com\/blog\/biobanking\/ehlers-danlos-syndrome-systematic-data-query-identifies-novel-variant\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/admin.acceleratingscience.com\/biobanking\/"},{"@type":"ListItem","position":2,"name":"Ehlers-Danlos Syndrome: Systematic Data Query Identifies Novel Variant"}]},{"@type":"WebSite","@id":"https:\/\/admin.acceleratingscience.com\/biobanking\/#website","url":"https:\/\/admin.acceleratingscience.com\/biobanking\/","name":"Inside Biobanking","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/admin.acceleratingscience.com\/biobanking\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/admin.acceleratingscience.com\/biobanking\/#\/schema\/person\/4059196ff73b52bc1f07844c5f4cc833","name":"Miriam Pollak","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/138c71d1874bdfb2f1009601f81ea94eacf7e42948fb85dfbf21aaf3bfafbe1d?s=96&d=mm&r=g","caption":"Miriam Pollak"},"url":"https:\/\/admin.acceleratingscience.com\/author\/miriampollack\/"}]}},"taxonomy_info":{"category":[{"value":17,"label":"Case Studies"}],"post_tag":[{"value":273,"label":"EDS"},{"value":274,"label":"systemic data query"}]},"featured_image_src_large":["https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg",500,281,false],"author_info":{"display_name":"Miriam Pollak","author_link":"https:\/\/admin.acceleratingscience.com\/author\/miriampollack\/"},"comment_info":0,"category_info":[{"term_id":17,"name":"Case Studies","slug":"case-studies","term_group":0,"term_taxonomy_id":17,"taxonomy":"category","description":"","parent":0,"count":94,"filter":"raw","meta":[],"cat_ID":17,"category_count":94,"category_description":"","cat_name":"Case Studies","category_nicename":"case-studies","category_parent":0}],"tag_info":[{"term_id":273,"name":"EDS","slug":"eds","term_group":0,"term_taxonomy_id":273,"taxonomy":"post_tag","description":"","parent":0,"count":2,"filter":"raw","meta":[]},{"term_id":274,"name":"systemic data query","slug":"systemic-data-query","term_group":0,"term_taxonomy_id":274,"taxonomy":"post_tag","description":"","parent":0,"count":2,"filter":"raw","meta":[]}],"jetpack-related-posts":[],"jetpack_sharing_enabled":true,"jetpack_featured_media_url":"https:\/\/admin.acceleratingscience.com\/biobanking\/wp-content\/uploads\/sites\/6\/2016\/05\/shutterstock_232207735-1.jpg","_links":{"self":[{"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/posts\/8462","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/comments?post=8462"}],"version-history":[{"count":0,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/posts\/8462\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/media\/8460"}],"wp:attachment":[{"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/media?parent=8462"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/categories?post=8462"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/tags?post=8462"},{"taxonomy":"division","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/biobanking\/wp-json\/wp\/v2\/division?post=8462"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}