{"id":26969,"date":"2026-04-08T13:34:51","date_gmt":"2026-04-08T13:34:51","guid":{"rendered":"https:\/\/www.dlongwood.com\/?post_type=productos&#038;p=26969"},"modified":"2026-04-08T13:34:51","modified_gmt":"2026-04-08T13:34:51","slug":"sophia-ddm-enhanced-clinical-exome-solution","status":"publish","type":"productos","link":"https:\/\/www.dlongwood.com\/en\/product-catalog\/sophia-ddm-enhanced-clinical-exome-solution\/","title":{"rendered":"SOPHiA DDM&#x2122; Enhanced Clinical Exome Solution"},"content":{"rendered":"\n<!-- Bloque de Estilos Scoped (Aislados, Blindados y Escalados a 14px) -->\n<style>\n    \/* Importaci\u00f3n de fuentes corporativas *\/\n    @import url('https:\/\/fonts.googleapis.com\/css2?family=Playfair+Display:wght@400;700&family=Raleway:wght@300;400;500;600;700&display=swap');\n\n    \/* Contenedor Principal Aislado *\/\n    .dlw-prod-wrapper {\n        font-family: 'Raleway', sans-serif !important;\n        color: #000000 !important;\n        line-height: 1.6 !important;\n        background-color: transparent !important;\n        padding: 0 !important;\n        max-width: 100% !important;\n        text-align: left !important;\n        display: block !important;\n        font-size: 14px !important; 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}\n        .dlw-check-list { grid-template-columns: 1fr !important; padding: 1.5em !important; }\n        .dlw-prod-img { max-width: 100% !important; }\n    }\n<\/style>\n\n<!-- ==========================================\n     CONTENIDO UNIFICADO Y BLINDADO\n     ========================================== -->\n<div class=\"dlw-prod-wrapper\">\n\n    <!-- Descripci\u00f3n Corta (Lead Box) -->\n    <div class=\"dlw-lead-box\">\n        <p>A comprehensive solution combining a capture-based enrichment kit and the <strong>SOPHiA DDM&#x2122;<\/strong> platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow.<\/p>\n    <\/div>\n\n    <!-- Descripci\u00f3n Detallada -->\n    <h2>Detailed Description<\/h2>\n\n    <h3>Operating Principle<\/h3>\n    <p>A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA DDM&#x2122; platform. The solution expands the SOPHiA DDM&#x2122; Clinical Exome Solution v3 kit with targeted probes to boost coverage in critical genomic regions and dedicated algorithms that reliably detect hard-to-identify variants, all within a single test.<\/p>\n\n    <!-- Imagen Centrada con Efecto Hover -->\n    <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/sophia_whole_exome_how.webp\" alt=\"SOPHiA Clinical Exome Solution\" class=\"dlw-prod-img\" title=\"\">\n\n    <h3>Clinical Applications<\/h3>\n    <p>Specially designed to advance the study of rare and hereditary diseases, and to consolidate indications such as carrier screening and hereditary cancer into a unified workflow.<\/p>\n\n    <h3>Benefits<\/h3>\n    <div class=\"dlw-list\">\n        <span class=\"dlw-list-item\">Increases laboratory efficiency by <strong>consolidating multiple tests<\/strong> into one.<\/span>\n        <span class=\"dlw-list-item\">Achieves sensitivities comparable to targeted panels in critical genomic regions.<\/span>\n        <span class=\"dlw-list-item\">Reduces the complexity of genomic data interpretation with specific features through the use of dedicated software.<\/span>\n    <\/div>\n\n    <h3>Intended Audience\/User<\/h3>\n    <p>Laboratories seeking an expanded clinical exome solution for multiple indications (rare\/hereditary diseases, carrier screening, hereditary cancer) with advanced analytical capabilities and comprehensive support.<\/p>\n\n    <!-- Aspectos Clave -->\n    <h2>Key Features<\/h2>\n    \n    <div class=\"dlw-check-list\">\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Expanded coverage<\/strong> of the clinical exome + mitochondrial genome + ~200 relevant non-coding variants.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Specific enhancements<\/strong> for hereditary cancer (94 genes) and carrier screening (155 genes).<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Reliable detection of complex variants:<\/strong> 1\u20132 exon CNVs, Alu insertions, gene conversions (PMS2\/PMS2CL, SMN1\/SMN2, CYP21A2), Boland inversions (MSH2), repetitive tracts (CFTR).<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Proven analytical performance:<\/strong> SNV\/Indel sensitivity 99.8%; precision 99.0%; >99% of on-target regions at >25\u00d7\/>50\u00d7 coverage.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Unified and efficient workflow<\/strong> with advanced interpretation tools: ACMG scoring, virtual panel generation, duo and trio analysis, and reporting.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>Direct integration capabilities with <strong>Alamut&#x2122; Visual Plus<\/strong>.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Access to the SOPHiA Genetics community<\/strong> to securely and anonymously share knowledge among specialists.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Expert support and cloud storage:<\/strong> secure, unlimited storage following industrial encryption standards and restricted access control to empower the interpretation of challenging variants.<\/span>\n        <\/div>\n    <\/div>\n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM&#x2122; platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow. Detailed Description Operating Principle A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA [&hellip;]<\/p>\n","protected":false},"featured_media":26970,"template":"","tecnologias":[36],"marcas":[215],"familias":[283,297,425],"class_list":["post-26969","productos","type-productos","status-publish","has-post-thumbnail","hentry","tecnologias-next-generation-sequencing-ngs","marcas-sophia-genetics-en","familias-molecular-genetics","familias-exomes","familias-hereditary_and_or_rare_diseases"],"_links":{"self":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26969","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos"}],"about":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/types\/productos"}],"version-history":[{"count":2,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26969\/revisions"}],"predecessor-version":[{"id":26975,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26969\/revisions\/26975"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media\/26970"}],"wp:attachment":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media?parent=26969"}],"wp:term":[{"taxonomy":"tecnologias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/tecnologias?post=26969"},{"taxonomy":"marcas","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/marcas?post=26969"},{"taxonomy":"familias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/familias?post=26969"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}