Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion

<!DOCTYPE html> <html lang="en" xml:lang="en"> <head> <meta charset="utf-8"> <meta name="viewport" content="width=device-width, initial-scale=1.0"> <title> Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion | Medinformatics </title> <link rel="icon" href="https://ojs.bonviewpress.com/public/journals/12/favicon_en_US.png"> <meta name="generator" content="Open Journal Systems 3.4.0.7"> <meta name="gs_meta_revision" content="1.1"/> <meta name="citation_journal_title" content="Medinformatics"/> <meta name="citation_journal_abbrev" content="MEDIN"/> <meta name="citation_issn" content="3029-1321"/> <meta name="citation_author" content="Camila Cristina de Oliveira Alves"/> <meta name="citation_author_institution" content="Laboratory of Applied Biotechnology, São Paulo State University, Brazil"/> <meta name="citation_author" content="Ivan Rodrigo Wolf"/> <meta name="citation_author_institution" content="Department of Structural and Functional Biology, São Paulo State University, Brazil"/> <meta name="citation_author" content="Bruno Faulin Gamba"/> <meta name="citation_author_institution" content="Biological Science Institute, Federal University of Goiás, Brazil"/> <meta name="citation_author" content="Lucilene Arilho Ribeiro Bicudo"/> <meta name="citation_author_institution" content="Biological Science Institute, Federal University of Goiás, Brazil"/> <meta name="citation_author" content="Guilherme Targino Valente"/> <meta name="citation_author_institution" content="Laboratory of Applied Biotechnology, São Paulo State University, Brazil"/> <meta name="citation_title" content="Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion"/> <meta name="citation_language" content="en"/> <meta name="citation_date" content="2024/05/06"/> <meta name="citation_volume" content="1"/> <meta name="citation_issue" content="3"/> <meta name="citation_firstpage" content="112"/> <meta name="citation_lastpage" content="121"/> <meta name="citation_doi" content="10.47852/bonviewMEDIN42022652"/> <meta name="citation_abstract_html_url" content="https://ojs.bonviewpress.com/index.php/MEDIN/article/view/2652"/> <meta name="citation_abstract" xml:lang="en" content="Several deletions are observed at the 22q11 locus and are responsible for 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, conotruncal anomaly face syndrome, or velocardiofacial syndrome. These microdeletions on human chromosome 22 range from 0.7 to 3 Mb. Many genes are affected by 22q11.2 deletion. However, despite the well-established clinical signs for the diagnosis of 22q11.2 deletion syndrome, the interactome background of 22q11.2 deletion syndrome is unknown. Here, we analyzed protein–protein interaction networks (PPIs) to assess the influences of 3 Mb 22q11.2 deletion on this network. We compared the general human PPI network against a network without 48 genes of the 3 Mb 22q11.2 locus in a homozygous condition: we compared topological metrics, enrichment of gene ontology terms, community assignments, and edge rewiring. The PPI networks revealed that this deletion affected the relevance of hundreds of non-deleted genes. Additionally, this 22q11.2 deletion induces intense rewiring of subnetworks, promoting an accumulation of proteins associated with DiGeorge clinical signs (CTCF, YY1, TFAP2A, PPARG, PAX6, RAX, and E2F3) in a single community (community 1). Therefore, we identified new genes that may be associated with the 22q11.2 deletion syndrome. Altogether, the systemic approaches used here yielded new insights into the 22q11.2 deletion syndrome. Received: 21 February 2024 | Revised: 26 April 2024 | Accepted: 29 April 2024 Conflicts of Interest The authors declare that they have no conflicts of interest to this work. Data Availability Statement The data that support the findings of this study are openly available in HuRI at http://www.interactome-atlas.org/, reference number [26]. The data that support the findings of this study are openly available in HumanNet at https://staging2.inetbio.org/humannetv3/, reference number [27]. The data that support the findings of this study are openly available in ComPPi at https://comppi.linkgroup.hu/, reference number [28]. The data that support the findings of this study are openly available in Biogrid at https://thebiogrid.org/, reference number [29]."/> <meta name="citation_keywords" xml:lang="en" content="DiGeorge syndrome"/> <meta name="citation_keywords" xml:lang="en" content="SD22q11"/> <meta name="citation_keywords" xml:lang="en" content="velocardiofacial syndrome"/> <meta name="citation_keywords" xml:lang="en" content="conotruncal anomaly face syndrome"/> <meta name="citation_keywords" xml:lang="en" content="systems biology"/> <meta name="citation_pdf_url" content="https://ojs.bonviewpress.com/index.php/MEDIN/article/download/2652/916"/> <link rel="schema.DC" href="http://purl.org/dc/elements/1.1/" /> <meta name="DC.Creator.PersonalName" content="Camila Cristina de Oliveira Alves"/> <meta name="DC.Creator.PersonalName" content="Ivan Rodrigo Wolf"/> <meta name="DC.Creator.PersonalName" content="Bruno Faulin Gamba"/> <meta name="DC.Creator.PersonalName" content="Lucilene Arilho Ribeiro Bicudo"/> <meta name="DC.Creator.PersonalName" content="Guilherme Targino Valente"/> <meta name="DC.Date.created" scheme="ISO8601" content="2024-05-06"/> <meta name="DC.Date.dateSubmitted" scheme="ISO8601" content="2024-02-21"/> <meta name="DC.Date.issued" scheme="ISO8601" content="2024-08-23"/> <meta name="DC.Date.modified" scheme="ISO8601" content="2024-08-23"/> <meta name="DC.Description" xml:lang="en" content="Several deletions are observed at the 22q11 locus and are responsible for 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, conotruncal anomaly face syndrome, or velocardiofacial syndrome. These microdeletions on human chromosome 22 range from 0.7 to 3 Mb. Many genes are affected by 22q11.2 deletion. However, despite the well-established clinical signs for the diagnosis of 22q11.2 deletion syndrome, the interactome background of 22q11.2 deletion syndrome is unknown. Here, we analyzed protein–protein interaction networks (PPIs) to assess the influences of 3 Mb 22q11.2 deletion on this network. We compared the general human PPI network against a network without 48 genes of the 3 Mb 22q11.2 locus in a homozygous condition: we compared topological metrics, enrichment of gene ontology terms, community assignments, and edge rewiring. The PPI networks revealed that this deletion affected the relevance of hundreds of non-deleted genes. Additionally, this 22q11.2 deletion induces intense rewiring of subnetworks, promoting an accumulation of proteins associated with DiGeorge clinical signs (CTCF, YY1, TFAP2A, PPARG, PAX6, RAX, and E2F3) in a single community (community 1). Therefore, we identified new genes that may be associated with the 22q11.2 deletion syndrome. Altogether, the systemic approaches used here yielded new insights into the 22q11.2 deletion syndrome. Received: 21 February 2024 | Revised: 26 April 2024 | Accepted: 29 April 2024 Conflicts of Interest The authors declare that they have no conflicts of interest to this work. Data Availability Statement The data that support the findings of this study are openly available in HuRI at http://www.interactome-atlas.org/, reference number [26]. The data that support the findings of this study are openly available in HumanNet at https://staging2.inetbio.org/humannetv3/, reference number [27]. The data that support the findings of this study are openly available in ComPPi at https://comppi.linkgroup.hu/, reference number [28]. The data that support the findings of this study are openly available in Biogrid at https://thebiogrid.org/, reference number [29]."/> <meta name="DC.Format" scheme="IMT" content="application/pdf"/> <meta name="DC.Format" scheme="IMT" content="application/zip"/> <meta name="DC.Format" scheme="IMT" content="application/zip"/> <meta name="DC.Identifier" content="2652"/> <meta name="DC.Identifier.pageNumber" content="112–121"/> <meta name="DC.Identifier.DOI" content="10.47852/bonviewMEDIN42022652"/> <meta name="DC.Identifier.URI" content="https://ojs.bonviewpress.com/index.php/MEDIN/article/view/2652"/> <meta name="DC.Language" scheme="ISO639-1" content="en"/> <meta name="DC.Rights" content="Copyright (c) 2024 Authors"/> <meta name="DC.Rights" content="https://creativecommons.org/licenses/by/4.0"/> <meta name="DC.Source" content="Medinformatics"/> <meta name="DC.Source.ISSN" content="3029-1321"/> <meta name="DC.Source.Issue" content="3"/> <meta name="DC.Source.Volume" content="1"/> <meta name="DC.Source.URI" content="https://ojs.bonviewpress.com/index.php/MEDIN"/> <meta name="DC.Subject" xml:lang="en" content="DiGeorge syndrome"/> <meta name="DC.Subject" xml:lang="en" content="SD22q11"/> <meta name="DC.Subject" xml:lang="en" content="velocardiofacial syndrome"/> <meta name="DC.Subject" xml:lang="en" content="conotruncal anomaly face syndrome"/> <meta name="DC.Subject" xml:lang="en" content="systems biology"/> <meta name="DC.Title" content="Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion"/> <meta name="DC.Type" content="Text.Serial.Journal"/> <meta name="DC.Type.articleType" content="Research Articles"/> <link rel="alternate" type="application/atom+xml" href="https://ojs.bonviewpress.com/index.php/MEDIN/gateway/plugin/AnnouncementFeedGatewayPlugin/atom"> <link rel="alternate" type="application/rdf+xml" href="https://ojs.bonviewpress.com/index.php/MEDIN/gateway/plugin/AnnouncementFeedGatewayPlugin/rss"> <link rel="alternate" type="application/rss+xml" href="https://ojs.bonviewpress.com/index.php/MEDIN/gateway/plugin/AnnouncementFeedGatewayPlugin/rss2"> <link rel="stylesheet" href="https://ojs.bonviewpress.com/index.php/MEDIN/$$$call$$$/page/page/css?name=stylesheet" type="text/css" /><link rel="stylesheet" href="https://ojs.bonviewpress.com/index.php/MEDIN/$$$call$$$/page/page/css?name=font" type="text/css" /><link rel="stylesheet" href="https://ojs.bonviewpress.com/lib/pkp/styles/fontawesome/fontawesome.css?v=3.4.0.7" type="text/css" /><style type="text/css">.pkp_structure_head { background: center / cover no-repeat url("https://ojs.bonviewpress.com/public/journals/12/homepageImage_en_US.png");}</style><link rel="stylesheet" href="https://ojs.bonviewpress.com/plugins/generic/orcidProfile/css/orcidProfile.css?v=3.4.0.7" type="text/css" /><link rel="stylesheet" href="https://ojs.bonviewpress.com/public/journals/12/styleSheet.css?d=2023-06-28+11%3A20%3A14" type="text/css" /><link rel="stylesheet" href="https://ojs.bonviewpress.com/plugins/generic/citationStyleLanguage/css/citationStyleLanguagePlugin.css?v=3.4.0.7" type="text/css" /> </head> <body class="pkp_page_article pkp_op_view" dir="ltr"> <div class="pkp_structure_page"> <header class="pkp_structure_head" id="headerNavigationContainer" role="banner"> <nav class="cmp_skip_to_content" aria-label="Jump to content links"> <a href="#pkp_content_main">Skip to main content</a> <a href="#siteNav">Skip to main navigation menu</a> <a href="#pkp_content_footer">Skip to site footer</a> </nav> <div class="pkp_head_wrapper"> <div class="pkp_site_name_wrapper"> <button class="pkp_site_nav_toggle"> <span>Open Menu</span> </button> <div class="pkp_site_name"> <a href=" https://ojs.bonviewpress.com/index.php/MEDIN/index " class="is_text">Medinformatics</a> </div> </div> <nav class="pkp_site_nav_menu" aria-label="Site Navigation"> <a id="siteNav"></a> <div class="pkp_navigation_primary_row"> <div class="pkp_navigation_primary_wrapper"> <ul id="navigationPrimary" class="pkp_navigation_primary pkp_nav_list"> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/index"> HOME </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/about"> ABOUT </a> <ul> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/aims_and_scope"> Aims and Scope </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/JM"> Journal Metrics </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/indexing"> Indexing & Abstracting </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/about/privacy"> Privacy Statement </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/contact"> Contact </a> </li> </ul> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/browse"> BROWSE </a> <ul> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/view/onlinefirst"> Online First </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/current"> Current Issue </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/archive"> All Issues </a> </li> </ul> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/contribute"> CONTRIBUTE </a> <ul> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/about/submissions"> Author Guidelines </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/OA"> Open Access </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/peer_review_process"> Peer Review Process </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/ethics"> Publishing Ethics </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/forreviewers"> For Reviewers </a> </li> </ul> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/eb"> EDITORIAL BOARD </a> </li> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/SI"> SPECIAL ISSUES </a> <ul> <li class=""> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/siproposal"> Submitting a Proposal </a> </li> </ul> </li> </ul> <div class="pkp_navigation_search_wrapper"> <a href="https://ojs.bonviewpress.com/index.php/index/search" class="pkp_search pkp_search_desktop"> <span class="fa fa-search" aria-hidden="true"></span> Search </a> </div> </div> </div> <div class="pkp_navigation_user_wrapper" id="navigationUserWrapper"> <ul id="navigationUser" class="pkp_navigation_user pkp_nav_list"> <li class="profile"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/user/register"> Register </a> </li> <li class="profile"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/login"> Login </a> </li> </ul> </div> </nav> </div> </header> <div class="pkp_structure_content has_sidebar"> <div class="pkp_structure_main" role="main"> <a id="pkp_content_main"></a> <div class="page page_article"> <nav class="cmp_breadcrumbs" role="navigation" aria-label="You are here:"> <ol> <li> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/index"> Home </a> <span class="separator">/</span> </li> <li> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/archive"> Archives </a> <span class="separator">/</span> </li> <li> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/view/92"> Vol. 1 No. 3 (2024) </a> <span class="separator">/</span> </li> <li class="current" aria-current="page"> <span aria-current="page"> Research Articles </span> </li> </ol> </nav> <article class="obj_article_details"> <h1 class="page_title"> Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion </h1> <div class="row"> <div class="main_entry"> <section class="item authors"> <h2 class="pkp_screen_reader">Authors</h2> <ul class="authors"> <li> <span class="name"> Camila Cristina de Oliveira Alves </span> <span class="affiliation"> Laboratory of Applied Biotechnology, São Paulo State University, Brazil </span> <span class="orcid"> <svg class="orcid_icon" viewBox="0 0 256 256" aria-hidden="true"> <style type="text/css"> .st0{fill:#A6CE39;} .st1{fill:#FFFFFF;} </style> <path class="st0" d="M256,128c0,70.7-57.3,128-128,128C57.3,256,0,198.7,0,128C0,57.3,57.3,0,128,0C198.7,0,256,57.3,256,128z"/> <g> <path class="st1" d="M86.3,186.2H70.9V79.1h15.4v48.4V186.2z"/> <path class="st1" d="M108.9,79.1h41.6c39.6,0,57,28.3,57,53.6c0,27.5-21.5,53.6-56.8,53.6h-41.8V79.1z M124.3,172.4h24.5 c34.9,0,42.9-26.5,42.9-39.7c0-21.5-13.7-39.7-43.7-39.7h-23.7V172.4z"/> <path class="st1" d="M88.7,56.8c0,5.5-4.5,10.1-10.1,10.1c-5.6,0-10.1-4.6-10.1-10.1c0-5.6,4.5-10.1,10.1-10.1 C84.2,46.7,88.7,51.3,88.7,56.8z"/> </g> </svg> <a href="https://orcid.org/0000-0003-3821-1279" target="_blank"> https://orcid.org/0000-0003-3821-1279 </a> </span> </li> <li> <span class="name"> Ivan Rodrigo Wolf </span> <span class="affiliation"> Department of Structural and Functional Biology, São Paulo State University, Brazil </span> <span class="orcid"> <svg class="orcid_icon" viewBox="0 0 256 256" aria-hidden="true"> <style type="text/css"> .st0{fill:#A6CE39;} .st1{fill:#FFFFFF;} </style> <path class="st0" d="M256,128c0,70.7-57.3,128-128,128C57.3,256,0,198.7,0,128C0,57.3,57.3,0,128,0C198.7,0,256,57.3,256,128z"/> <g> <path class="st1" d="M86.3,186.2H70.9V79.1h15.4v48.4V186.2z"/> <path class="st1" d="M108.9,79.1h41.6c39.6,0,57,28.3,57,53.6c0,27.5-21.5,53.6-56.8,53.6h-41.8V79.1z M124.3,172.4h24.5 c34.9,0,42.9-26.5,42.9-39.7c0-21.5-13.7-39.7-43.7-39.7h-23.7V172.4z"/> <path class="st1" d="M88.7,56.8c0,5.5-4.5,10.1-10.1,10.1c-5.6,0-10.1-4.6-10.1-10.1c0-5.6,4.5-10.1,10.1-10.1 C84.2,46.7,88.7,51.3,88.7,56.8z"/> </g> </svg> <a href="https://orcid.org/0000-0002-9042-1823" target="_blank"> https://orcid.org/0000-0002-9042-1823 </a> </span> </li> <li> <span class="name"> Bruno Faulin Gamba </span> <span class="affiliation"> Biological Science Institute, Federal University of Goiás, Brazil </span> <span class="orcid"> <svg class="orcid_icon" viewBox="0 0 256 256" aria-hidden="true"> <style type="text/css"> .st0{fill:#A6CE39;} .st1{fill:#FFFFFF;} </style> <path class="st0" d="M256,128c0,70.7-57.3,128-128,128C57.3,256,0,198.7,0,128C0,57.3,57.3,0,128,0C198.7,0,256,57.3,256,128z"/> <g> <path class="st1" d="M86.3,186.2H70.9V79.1h15.4v48.4V186.2z"/> <path class="st1" d="M108.9,79.1h41.6c39.6,0,57,28.3,57,53.6c0,27.5-21.5,53.6-56.8,53.6h-41.8V79.1z M124.3,172.4h24.5 c34.9,0,42.9-26.5,42.9-39.7c0-21.5-13.7-39.7-43.7-39.7h-23.7V172.4z"/> <path class="st1" d="M88.7,56.8c0,5.5-4.5,10.1-10.1,10.1c-5.6,0-10.1-4.6-10.1-10.1c0-5.6,4.5-10.1,10.1-10.1 C84.2,46.7,88.7,51.3,88.7,56.8z"/> </g> </svg> <a href="https://orcid.org/0000-0002-3874-7703" target="_blank"> https://orcid.org/0000-0002-3874-7703 </a> </span> </li> <li> <span class="name"> Lucilene Arilho Ribeiro Bicudo </span> <span class="affiliation"> Biological Science Institute, Federal University of Goiás, Brazil </span> </li> <li> <span class="name"> Guilherme Targino Valente </span> <span class="affiliation"> Laboratory of Applied Biotechnology, São Paulo State University, Brazil </span> <span class="orcid"> <svg class="orcid_icon" viewBox="0 0 256 256" aria-hidden="true"> <style type="text/css"> .st0{fill:#A6CE39;} .st1{fill:#FFFFFF;} </style> <path class="st0" d="M256,128c0,70.7-57.3,128-128,128C57.3,256,0,198.7,0,128C0,57.3,57.3,0,128,0C198.7,0,256,57.3,256,128z"/> <g> <path class="st1" d="M86.3,186.2H70.9V79.1h15.4v48.4V186.2z"/> <path class="st1" d="M108.9,79.1h41.6c39.6,0,57,28.3,57,53.6c0,27.5-21.5,53.6-56.8,53.6h-41.8V79.1z M124.3,172.4h24.5 c34.9,0,42.9-26.5,42.9-39.7c0-21.5-13.7-39.7-43.7-39.7h-23.7V172.4z"/> <path class="st1" d="M88.7,56.8c0,5.5-4.5,10.1-10.1,10.1c-5.6,0-10.1-4.6-10.1-10.1c0-5.6,4.5-10.1,10.1-10.1 C84.2,46.7,88.7,51.3,88.7,56.8z"/> </g> </svg> <a href="https://orcid.org/0000-0001-5355-3424" target="_blank"> https://orcid.org/0000-0001-5355-3424 </a> </span> </li> </ul> </section> <section class="item doi"> <h2 class="label"> DOI: </h2> <span class="value"> <a href="https://doi.org/10.47852/bonviewMEDIN42022652"> https://doi.org/10.47852/bonviewMEDIN42022652 </a> </span> </section> <section class="item keywords"> <h2 class="label"> Keywords: </h2> <span class="value"> DiGeorge syndrome, SD22q11, velocardiofacial syndrome, conotruncal anomaly face syndrome, systems biology </span> </section> <section class="item abstract"> <h2 class="label">Abstract</h2> <p>Several deletions are observed at the 22q11 locus and are responsible for 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, conotruncal anomaly face syndrome, or velocardiofacial syndrome. These microdeletions on human chromosome 22 range from 0.7 to 3 Mb. Many genes are affected by 22q11.2 deletion. However, despite the well-established clinical signs for the diagnosis of 22q11.2 deletion syndrome, the interactome background of 22q11.2 deletion syndrome is unknown. Here, we analyzed protein–protein interaction networks (PPIs) to assess the influences of 3 Mb 22q11.2 deletion on this network. We compared the general human PPI network against a network without 48 genes of the 3 Mb 22q11.2 locus in a homozygous condition: we compared topological metrics, enrichment of gene ontology terms, community assignments, and edge rewiring. The PPI networks revealed that this deletion affected the relevance of hundreds of non-deleted genes. Additionally, this 22q11.2 deletion induces intense rewiring of subnetworks, promoting an accumulation of proteins associated with DiGeorge clinical signs (CTCF, YY1, TFAP2A, PPARG, PAX6, RAX, and E2F3) in a single community (community 1). Therefore, we identified new genes that may be associated with the 22q11.2 deletion syndrome. Altogether, the systemic approaches used here yielded new insights into the 22q11.2 deletion syndrome.</p> <p> </p> <p><strong>Received:</strong> 21 February 2024 <strong>| Revised:</strong> 26 April 2024 <strong>| Accepted:</strong> 29 April 2024</p> <p> </p> <p><strong>Conflicts of Interest</strong></p> <p>The authors declare that they have no conflicts of interest to this work.</p> <p> </p> <p><strong>Data Availability Statement</strong></p> <p>The data that support the findings of this study are openly available in HuRI at <a href="http://www.interactome-atlas.org/">http://www.interactome-atlas.org/</a>, reference number [26]. The data that support the findings of this study are openly available in HumanNet at <a href="https://staging2.inetbio.org/humannetv3/">https://staging2.inetbio.org/humannetv3/</a>, reference number [27]. The data that support the findings of this study are openly available in ComPPi at <a href="https://comppi.linkgroup.hu/">https://comppi.linkgroup.hu/</a>, reference number [28]. The data that support the findings of this study are openly available in Biogrid at <a href="https://thebiogrid.org/">https://thebiogrid.org/</a>, reference number [29].</p> </section> <br /><div class="separator"></div><div class="item abstract" id="trendmd-suggestions"></div><script defer src='//js.trendmd.com/trendmd.min.js' data-trendmdconfig='{"website_id":"89271", "element":"#trendmd-suggestions"}'></script> </div> <div class="entry_details"> <div class="item cover_image"> <div class="sub_item"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/view/92"> <img src="https://ojs.bonviewpress.com/public/journals/12/cover_issue_92_en_US.png" alt=""> </a> </div> </div> <div class="item galleys"> <h2 class="pkp_screen_reader"> Downloads </h2> <ul class="value galleys_links"> <li> <a class="obj_galley_link pdf" href="https://ojs.bonviewpress.com/index.php/MEDIN/article/view/2652/916"> PDF </a> </li> </ul> </div> <div class="item galleys"> <h3 class="pkp_screen_reader"> Additional Files </h3> <ul class="value supplementary_galleys_links"> <li> <a class="obj_galley_link_supplementary file" href="https://ojs.bonviewpress.com/index.php/MEDIN/article/view/2652/979"> Supplementary Figures </a> </li> <li> <a class="obj_galley_link_supplementary file" href="https://ojs.bonviewpress.com/index.php/MEDIN/article/view/2652/980"> Supplementary Tables </a> </li> </ul> </div> <div class="item published"> <section class="sub_item"> <h2 class="label"> Published </h2> <div class="value"> <span>2024-05-06</span> </div> </section> </div> <div class="item issue"> <section class="sub_item"> <h2 class="label"> Issue </h2> <div class="value"> <a class="title" href="https://ojs.bonviewpress.com/index.php/MEDIN/issue/view/92"> Vol. 1 No. 3 (2024) </a> </div> </section> <section class="sub_item"> <h2 class="label"> Section </h2> <div class="value"> Research Articles </div> </section> </div> <div class="item copyright"> <h2 class="label"> License </h2> <p>Copyright (c) 2024 Authors</p> <a rel="license" href="https://creativecommons.org/licenses/by/4.0/"><img alt="Creative Commons License" src="//i.creativecommons.org/l/by/4.0/88x31.png" /></a><p>This work is licensed under a <a rel="license" href="https://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution 4.0 International License</a>.</p> </div> <div class="item citation"> <section class="sub_item citation_display"> <h2 class="label"> How to Cite </h2> <div class="value"> <div id="citationOutput" role="region" aria-live="polite"> <div class="csl-bib-body"> <div class="csl-entry">Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion. (2024). <i>Medinformatics</i>, <i>1</i>(3), 112–121. <a href="https://doi.org/10.47852/bonviewMEDIN42022652">https://doi.org/10.47852/bonviewMEDIN42022652</a></div> </div> </div> <div class="citation_formats"> <button class="citation_formats_button label" aria-controls="cslCitationFormats" aria-expanded="false" data-csl-dropdown="true"> More Citation Formats </button> <div id="cslCitationFormats" class="citation_formats_list" aria-hidden="true"> <ul class="citation_formats_styles"> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/acm-sig-proceedings?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/acm-sig-proceedings?submissionId=2652&publicationId=3827&issueId=92&return=json" > ACM </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/acs-nano?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/acs-nano?submissionId=2652&publicationId=3827&issueId=92&return=json" > ACS </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/apa?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/apa?submissionId=2652&publicationId=3827&issueId=92&return=json" > APA </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/associacao-brasileira-de-normas-tecnicas?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/associacao-brasileira-de-normas-tecnicas?submissionId=2652&publicationId=3827&issueId=92&return=json" > ABNT </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/chicago-author-date?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/chicago-author-date?submissionId=2652&publicationId=3827&issueId=92&return=json" > Chicago </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/harvard-cite-them-right?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/harvard-cite-them-right?submissionId=2652&publicationId=3827&issueId=92&return=json" > Harvard </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/ieee?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/ieee?submissionId=2652&publicationId=3827&issueId=92&return=json" > IEEE </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/modern-language-association?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/modern-language-association?submissionId=2652&publicationId=3827&issueId=92&return=json" > MLA </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/turabian-fullnote-bibliography?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/turabian-fullnote-bibliography?submissionId=2652&publicationId=3827&issueId=92&return=json" > Turabian </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/vancouver?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/vancouver?submissionId=2652&publicationId=3827&issueId=92&return=json" > Vancouver </a> </li> <li> <a aria-controls="citationOutput" href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/ama?submissionId=2652&publicationId=3827&issueId=92" data-load-citation data-json-href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/get/ama?submissionId=2652&publicationId=3827&issueId=92&return=json" > AMA </a> </li> </ul> <div class="label"> Download Citation </div> <ul class="citation_formats_styles"> <li> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/download/ris?submissionId=2652&publicationId=3827&issueId=92"> <span class="fa fa-download"></span> Endnote/Zotero/Mendeley (RIS) </a> </li> <li> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/citationstylelanguage/download/bibtex?submissionId=2652&publicationId=3827&issueId=92"> <span class="fa fa-download"></span> BibTeX </a> </li> </ul> </div> </div> </div> </section> </div> <div class="item addthis"> <div class="value">  <div class="addthis_toolbox addthis_default_style addthis_32x32_style"> <a class="addthis_button_preferred_1"></a> <a class="addthis_button_preferred_2"></a> <a class="addthis_button_preferred_3"></a> <a class="addthis_button_preferred_4"></a> <a class="addthis_button_compact"></a> <a class="addthis_counter addthis_bubble_style"></a> </div> <script type="text/javascript" src="//s7.addthis.com/js/250/addthis_widget.js#pubid="></script>  </div> </div> <div class="item funders"> <h2 class="label">Funding data</h2> <div class="value"> <ul> <li> <a href="https://search.crossref.org/funding?q=501100001807">Fundação de Amparo à Pesquisa do Estado de São Paulo</a> <br /> Grant numbers 2015/12093-9 </li> <li> <a href="https://search.crossref.org/funding?q=501100001807">Fundação de Amparo à Pesquisa do Estado de São Paulo</a> <br /> Grant numbers 2015/19211-7 </li> <li> <a href="https://search.crossref.org/funding?q=501100001807">Fundação de Amparo à Pesquisa do Estado de São Paulo</a> <br /> Grant numbers 2017/08463-0 </li> <li> <a href="https://search.crossref.org/funding?q=501100002322">Coordenação de Aperfeiçoamento de Pessoal de Nível Superior</a> <br /> Grant numbers Finance Code 001 </li> </ul> </div> </div> </div> </div> </article> </div> </div> <div class="pkp_structure_sidebar left" role="complementary"> <div class="pkp_block block_custom" id="customblock-journal-information"> <h2 class="title">Journal Information</h2> <div class="content"> <div class="journalcard__metrics border"> <div class="journalcard__metrics border"><span class="sc-hwwEjo cdchLr"><strong>Editor-in-Chief:</strong> <span class=" jgG6ef">Hao Lin</span></span></div> <div class="journalcard__metrics border"><span class="sc-hwwEjo cdchLr">University of Electronic Science and Technology of China, China</span></div> <div class="journalcard__metrics border"><span class="sc-hwwEjo cdchLr"><strong>Frequency: </strong>Quarterly</span></div> <div class="journalcard__metrics border"><span class="sc-kPVwWT hZDpyF"><span class="sc-hwwEjo cdchLr"><strong>Submission to First Decision: </strong>29 days</span></span></div> <div class="journalcard__metrics border"><span class="sc-kPVwWT hZDpyF"><span class="sc-hwwEjo cdchLr"><strong>Submission to Acceptance:</strong> 127 days</span></span></div> <div class="journalcard__metrics border"><span class="sc-kPVwWT hZDpyF"><span class="sc-hwwEjo cdchLr"><strong>Accept to Publish:</strong> 8 days</span></span></div> <div class="journalcard__metrics border"><span class="sc-kPVwWT hZDpyF"><span class="sc-hwwEjo cdchLr"><strong>Acceptance Rate:</strong> 22%</span></span></div> <div class="journalcard__metrics border"><span class="sc-kPVwWT hZDpyF"><span class="sc-hwwEjo cdchLr"><strong>eISSN:</strong> 3029-1321</span></span></div> </div> <div class="journalcard__metrics border"> <p class="journalcard__metrics border">© 2024  Bon View Publishing Pte Ltd.</p> </div> </div> </div> <div class="pkp_block block_make_submission"> <h2 class="pkp_screen_reader"> Make a Submission </h2> <div class="content"> <a class="block_make_submission_link" href="https://ojs.bonviewpress.com/index.php/MEDIN/about/submissions"> Make a Submission </a> </div> </div> <style type="text/css"> .block_announcements_article:not(:last-child) { padding-bottom: 1.5em; border-bottom: 1px solid; } .block_announcements_article { text-align: left; } .block_announcements #show-all{ font-style: italic; } </style> <div class="pkp_block block_announcements"> <h2 class="title">Announcements</h2> <div class="content"> <article class="block_announcements_article"> <h3 class="block_announcements_article_headline"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/announcement/view/82"> Exciting Upcoming Events of Our Media Partner EMBL </a> </h3> <time class="block_announcements_article_date" datetime="2024-06-07"> <strong>June 7, 2024</strong> </time> <div class="block_announcements_article_content"> <p>We are thrilled to announce a series of exciting events of our esteemed media partner, the European Molecular Biology Laboratory (EMBL). As leaders in cutting-edge research and innovation, EMBL continues to drive forward scientific discovery.</p> </div> </article> <article class="block_announcements_article"> <h3 class="block_announcements_article_headline"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/announcement/view/75"> STM Membership Announcement </a> </h3> <time class="block_announcements_article_date" datetime="2024-04-24"> <strong>April 24, 2024</strong> </time> <div class="block_announcements_article_content"> <p>Bon View Publishing Pte. Ltd. proudly announces its membership in the esteemed <a href="https://www.stm-assoc.org/"><u>International Association of Scientific, Technical and Medical Publishers(STM)</u></a>, effective 2024. This collaboration marks a significant milestone in advancing global knowledge exchange and promoting cutting-edge research.</p> </div> </article> <a id="show-all" href="https://ojs.bonviewpress.com/index.php/MEDIN/announcement">Show all announcements ...</a> </div> </div> <div class="pkp_block block_keyword_cloud"> <h2 class="title">Keywords</h2> <div class="content" id='wordcloud'></div> <script> function randomColor() { var cores = ['#1f77b4', '#ff7f0e', '#2ca02c', '#d62728', '#9467bd', '#8c564b', '#e377c2', '#7f7f7f', '#bcbd22', '#17becf']; return cores[Math.floor(Math.random()*cores.length)]; } document.addEventListener("DOMContentLoaded", function() { var keywords = [{"text":"machine learning","size":1},{"text":"genomics","size":1},{"text":"whole genome sequencing (wgs)","size":1},{"text":"whole exome sequencing (wes)","size":1},{"text":"spatial transcriptomics","size":1},{"text":"metagenomics","size":1},{"text":"epigenomics","size":1},{"text":"ensemble deep learning","size":1},{"text":"external validation","size":1},{"text":"pathological complete response","size":1},{"text":"neoadjuvant chemotherapy","size":1},{"text":"breast cancer","size":1},{"text":"monocular depth estimation","size":1},{"text":"zero-shot cross-dataset transfer","size":1},{"text":"deep learning","size":1},{"text":"stereo fundus photography","size":1},{"text":"binding energy","size":1},{"text":"in silico","size":1},{"text":"molecular docking","size":1},{"text":"natural products","size":1},{"text":"pass","size":1},{"text":"yupingfengsan","size":1},{"text":"traditional chinese medicine","size":1},{"text":"covid-19","size":1},{"text":"immune-regulatory","size":1},{"text":"review","size":1},{"text":"breast cancer diagnosis","size":1},{"text":"ai-powered image analysis","size":1},{"text":"machine learning techniques","size":1},{"text":"support vector machines","size":1},{"text":"cad","size":1},{"text":"ant colony optimization","size":1},{"text":"alzheimer's disease","size":1},{"text":"gene order","size":1},{"text":"co-expression relationships","size":1},{"text":"support vector machine","size":1},{"text":"environmental carcinogens","size":1},{"text":"cancer risk factors","size":1},{"text":"pollution and cancer","size":1},{"text":"chemical exposures","size":1},{"text":"epidemiological studies","size":1},{"text":"carcinogenesis mechanisms","size":1},{"text":"public health interventions","size":1},{"text":"virtual clinical triage","size":1},{"text":"sudden cardiac arrest","size":1},{"text":"symptom checker","size":1},{"text":"artificial intelligence","size":1},{"text":"life-threatening symptoms","size":1},{"text":"cardiac disease","size":1},{"text":"deep neural network","size":1}]; var totalWeight = 0; var blockWidth = 300; var blockHeight = 200; var transitionDuration = 200; var length_keywords = keywords.length; var layout = d3.layout.cloud(); layout.size([blockWidth, blockHeight]) .words(keywords) .fontSize(function(d) { return fontSize(+d.size); }) .on('end', draw); var svg = d3.select("#wordcloud").append("svg") .attr("viewBox", "0 0 " + blockWidth + " " + blockHeight) .attr("width", '100%'); function update() { var words = layout.words(); fontSize = d3.scaleLinear().range([16, 34]); if (words.length) { fontSize.domain([+words[words.length - 1].size || 1, +words[0].size]); } } keywords.forEach(function(item,index){totalWeight += item.size;}); update(); function draw(words, bounds) { var width = layout.size()[0], height = layout.size()[1]; scaling = bounds ? Math.min( width / Math.abs(bounds[1].x - width / 2), width / Math.abs(bounds[0].x - width / 2), height / Math.abs(bounds[1].y - height / 2), height / Math.abs(bounds[0].y - height / 2), ) / 2 : 1; svg .append("g") .attr( "transform", "translate(" + [width >> 1, height >> 1] + ")scale(" + scaling + ")", ) .selectAll("text") .data(words) .enter().append("text") .style("font-size", function(d) { return d.size + "px"; }) .style("font-family", 'serif') .style("fill", randomColor) .style('cursor', 'pointer') .style('opacity', 0.7) .attr('class', 'keyword') .attr("text-anchor", "middle") .attr("transform", function(d) { return "translate(" + [d.x, d.y] + ")rotate(" + d.rotate + ")"; }) .text(function(d) { return d.text; }) .on("click", function(d, i){ window.location = "https://ojs.bonviewpress.com/index.php/index/search?query=QUERY_SLUG".replace(/QUERY_SLUG/, encodeURIComponent(''+d.text+'')); }) .on("mouseover", function(d, i) { d3.select(this).transition() .duration(transitionDuration) .style('font-size',function(d) { return (d.size + 3) + "px"; }) .style('opacity', 1); }) .on("mouseout", function(d, i) { d3.select(this).transition() .duration(transitionDuration) .style('font-size',function(d) { return d.size + "px"; }) .style('opacity', 0.7); }) .on('resize', function() { update() }); } layout.start(); }); </script> </div> </div> </div> <div class="pkp_structure_footer_wrapper" role="contentinfo"> <a id="pkp_content_footer"></a> <div class="pkp_structure_footer"> <div class="pkp_footer_content"> <p><a href="http://creativecommons.org/licenses/by/4.0/" rel="license"><img style="border-width: 0;" src="https://ojs.bonviewpress.com/public/site/images/admin/88x31.png" alt="知识共享许可" width="88" height="31" /></a> All site content, except where otherwise noted, is licensed under a <a href="http://creativecommons.org/licenses/by/4.0/">Creative Commons Attribution 4.0 International License</a>.</p> <p>eISSN 3029-1321 | Published by <a href="http://www.bonviewpress.com/">Bon View Publishing Pte Ltd.</a></p> <p><strong>Member of</strong></p> <p><img style="width: 900px; height: 70px;" src="https://bonview.oss-ap-southeast-1.aliyuncs.com/resource/ojs-logo-quanji.png" /> </p> </div> <div class="pkp_brand_footer"> <a href="https://ojs.bonviewpress.com/index.php/MEDIN/about/aboutThisPublishingSystem"> <img alt="More information about the publishing system, Platform and Workflow by OJS/PKP." src="https://ojs.bonviewpress.com/templates/images/ojs_brand.png"> </a> </div> </div> </div> </div> <script src="https://ojs.bonviewpress.com/lib/pkp/lib/vendor/components/jquery/jquery.min.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/lib/pkp/lib/vendor/components/jqueryui/jquery-ui.min.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/plugins/themes/default/js/lib/popper/popper.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/plugins/themes/default/js/lib/bootstrap/util.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/plugins/themes/default/js/lib/bootstrap/dropdown.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/plugins/themes/default/js/main.js?v=3.4.0.7" type="text/javascript"></script><script src="https://ojs.bonviewpress.com/plugins/generic/citationStyleLanguage/js/articleCitation.js?v=3.4.0.7" type="text/javascript"></script><script src="https://d3js.org/d3.v4.js?v=3.4.0.7" type="text/javascript"></script><script src="https://cdn.jsdelivr.net/gh/holtzy/D3-graph-gallery@master/LIB/d3.layout.cloud.js?v=3.4.0.7" type="text/javascript"></script><script type="text/javascript"> (function (w, d, s, l, i) { w[l] = w[l] || []; var f = d.getElementsByTagName(s)[0], j = d.createElement(s), dl = l != 'dataLayer' ? '&l=' + l : ''; j.async = true; j.src = 'https://www.googletagmanager.com/gtag/js?id=' + i + dl; f.parentNode.insertBefore(j, f); function gtag(){dataLayer.push(arguments)}; gtag('js', new Date()); gtag('config', i); }) (window, document, 'script', 'dataLayer', 'UA-284252596-1'); </script> </body> </html>

CINXE.COM

Exploring Disrupted Gene Networks in Human 22q11.2 Microdeletion | Medinformatics