{"id":4187,"date":"2021-11-05T09:00:36","date_gmt":"2021-11-05T08:00:36","guid":{"rendered":"https:\/\/adntro.com\/?p=4187"},"modified":"2025-08-04T11:59:34","modified_gmt":"2025-08-04T09:59:34","slug":"secuenciacion-masiva-nueva-generacion-ngs","status":"publish","type":"post","link":"https:\/\/adntro.com\/de\/blog\/pharmakogenetik\/massensequenzierung-neue-generation-ngs\/","title":{"rendered":"Die Ankunft der Genommedizin dank Massensequenzierung (NGS)"},"content":{"rendered":"<p>Derzeit ist die Technologie bekannt als <strong>Massensequenzierung der n\u00e4chsten Generation<\/strong>, oder NGS f\u00fcr sein englisches Akronym, <strong><em>Sequenzierung der n\u00e4chsten Generation<\/em><\/strong>, gilt als das fortschrittlichste Werkzeug f\u00fcr die Untersuchung und Diagnose von <strong>menschliche genetische Krankheiten<\/strong>. Es sei daran erinnert, dass seit der Entwicklung des Humangenomprojekts (Abbildung 1) im Jahr 2001<sup>1,2<\/sup> die Kosten f\u00fcr die Sequenzierung eines Genoms sind von 100 Millionen Dollar auf heute etwa 1000 Euro in Bezug auf die Reagenzkosten gesunken.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" width=\"708\" height=\"453\" src=\"http:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_1.png\" alt=\"\" class=\"wp-image-4186\" style=\"width:839px;height:537px\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_1.png 708w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_1-300x192.png 300w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_1-18x12.png 18w\" sizes=\"(max-width: 708px) 100vw, 708px\" \/><figcaption class=\"wp-element-caption\"><strong>Abbildung 1. Titelseite der beiden wichtigsten Zeitschriften, <\/strong>im Jahr der Ver\u00f6ffentlichung des Humangenomprojekts, 2001. Quelle: Zeitschriften <em>Wissenschaft<\/em> und <em>Natur<\/em>.<\/figcaption><\/figure>\n\n\n\n<p>Dieser R\u00fcckgang der Sequenzierungskosten, der Anstieg der Rechenkapazit\u00e4ten und der unaufhaltsame Fortschritt der wissenschaftlichen Erkenntnisse haben es den <strong>Identifizierung Hunderter neuer Gene, die mit Krankheiten assoziiert sind, Identifizierung von Biomarkern f\u00fcr das Risiko einer Anf\u00e4lligkeit f\u00fcr Krankheiten oder m\u00f6gliche Nebenwirkungen von Medikamenten<\/strong>.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Die Vorteile der Massensequenzierung (NGS)<\/strong><\/h2>\n\n\n\n<p>Massensequenzierung aus <strong><em>Sequenzierung der n\u00e4chsten Generation<\/em><\/strong> Es erlaubt <strong>Studieren Sie unsere DNA aus verschiedenen Strategien<\/strong>, vom kleinsten Komplex, in dem wir eine Reihe von interessierenden Genen untersuchen k\u00f6nnen, gefolgt von der Sequenzierung des gesamten kodierenden Bereichs des Genoms (der aus den Genen besteht, die alle Proteine in unserem K\u00f6rper kodieren), bekannt als WES , um die Sequenzierung der 3.000 x 10<sup>6<\/sup> Basenpaare, aus denen unser gesamtes Genom besteht (Abbildung 2).<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"425\" height=\"273\" src=\"http:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_2.png\" alt=\"\" class=\"wp-image-4183\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_2.png 425w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_2-300x193.png 300w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/10\/NGS_2-18x12.png 18w\" sizes=\"(max-width: 425px) 100vw, 425px\" \/><\/figure>\n<\/div>\n\n\n<p><em><strong>Abbildung 2. Genetische Analysestrategien mit massiver Sequenzierung. <\/strong>Von links nach rechts von h\u00f6chster bis niedrigster Komplexit\u00e4t: WGS, Whole Genome Sequencing oder Complete Genome Sequencing; WES, Whole Exom Sequencing oder komplette Exom-Sequenzierung; und benutzerdefinierte Gen-Panels.<\/em><\/p>\n\n\n\n<p>Durch die Entwicklung dieser Technologie hat sich die diagnostische Leistungsf\u00e4higkeit bei vielen Erkrankungen wie geistiger Behinderung, Herz-Kreislauf-Erkrankungen, Krebs durch die Identifizierung neuer Gene, Genomregionen und zugeh\u00f6riger Biomarker erheblich verbessert. Die Herausforderung der letzten Jahre besteht darin, all diese Erkenntnisse und technologischen Entwicklungen so in den klinischen Alltag zu \u00fcbertragen, dass <strong>Jeder kann auf diese genetischen Diagnosewerkzeuge zugreifen, wann immer er sie ben\u00f6tigt.&nbsp;<\/strong><\/p>\n\n\n\n<p><strong>Bei ADNTRO bieten wir Ihnen die M\u00f6glichkeit, sich f\u00fcr Ihr <a href=\"https:\/\/adntro.com\/de\/gesamtgenom-sequenzierung\/\">vollst\u00e4ndiges Genom<\/a><\/strong>, und dank unseres Expertenteams in Zusammenarbeit mit unseren <strong>Mitarbeiter in der Genommedizin<\/strong> - BitGenetic - wir k\u00f6nnen Ihnen helfen, Ihr Genom zu nutzen und bieten Ihnen die M\u00f6glichkeit, eine<strong> genetische Diagnostik und Auswertung der Ergebnisse<\/strong> die sich positiv auf Ihre Gesundheit auswirken k\u00f6nnen. Wenn Sie interessiert sind, nehmen Sie bitte Kontakt mit uns auf.<\/p>\n\n\n\n<p><strong>Quelle:<\/strong> <strong>1<\/strong> Internationales Konsortium f\u00fcr die Sequenzierung des menschlichen Genoms. Erste Sequenzierung und Analyse des menschlichen Genoms.\u00a0<em>Natur<\/em>\u00a0<strong>409,\u00a0<\/strong>860-921 (2001). <a href=\"http:\/\/www.nature.com\/articles\/35057062\"><a href=\"http:\/\/www.nature.com\/articles\/35057062\" target=\"_blank\" rel=\"noreferrer noopener\">http:\/\/www.nature.com\/articles\/35057062<\/a><\/a> Venter JC, Adams MD, Myers EW, et al. Die Sequenz des menschlichen Genoms. Wissenschaft. 16. Februar 2001, 291 (5507): 1304-51. doi: 10.1126 \/ science.1058040. Erratum in: Science 2001 5.6.; 292 (5523): 1838. PMID: 11181995.<\/p>","protected":false},"excerpt":{"rendered":"<p>Die als Next Generation Sequencing (NGS) bekannte Technologie gilt derzeit als das fortschrittlichste Instrument f\u00fcr die Untersuchung und Diagnose menschlicher Erbkrankheiten. Es sei daran erinnert, dass seit der Entwicklung des Humangenomprojekts (Abbildung 1) im Jahr 20011,2 die Kosten f\u00fcr NGS [...]<\/p>","protected":false},"author":8,"featured_media":16736,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[36],"tags":[42,140,182,184,37,18,185,143,186,181],"class_list":["post-4187","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-farmacogenetica-farmacogenomica","tag-adntro","tag-biomarcadores","tag-diagnostico","tag-enfermedades","tag-farmacogenetica","tag-genetica","tag-medicamentos","tag-medicina-genomica","tag-medicina-preventiva","tag-ngs"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Farmacogenetica: La secuenciaci\u00f3n masiva NGS | Blog ADNTRO<\/title>\n<meta name=\"description\" content=\"\u00bfSab\u00edas que gracias a la NGS el diagn\u00f3stico de muchas enfermedades ha mejorado? 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Biotecn\u00f3loga por la Universidad Francisco de Vitoria, donde recibi\u00f3 dos becas de expediente acad\u00e9mico brillante. Estuvo trabajando en un proyecto de investigaci\u00f3n sobre la asimetr\u00eda izquierda-derecha en Newcastle, siendo premiada en la Conferencia del Centro de Investigaci\u00f3n Cardiovascular Trainees Meeting como el mejor p\u00f3ster (2018). Complet\u00f3 un m\u00e1ster en Biolog\u00eda Computacional en la Universidad Polit\u00e9cnica de Madrid. All\u00ed estudi\u00f3 las redes de interacci\u00f3n metab\u00f3lica en el microbioma de pacientes con Enfermedad de Chron y Colitis Ulcerosa en el centro de investigaci\u00f3n CBGP, centro de Excelencia Severo Ochoa (2020). 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Biotecn\u00f3loga por la Universidad Francisco de Vitoria, donde recibi\u00f3 dos becas de expediente acad\u00e9mico brillante. Estuvo trabajando en un proyecto de investigaci\u00f3n sobre la asimetr\u00eda izquierda-derecha en Newcastle, siendo premiada en la Conferencia del Centro de Investigaci\u00f3n Cardiovascular Trainees Meeting como el mejor p\u00f3ster (2018). Complet\u00f3 un m\u00e1ster en Biolog\u00eda Computacional en la Universidad Polit\u00e9cnica de Madrid. All\u00ed estudi\u00f3 las redes de interacci\u00f3n metab\u00f3lica en el microbioma de pacientes con Enfermedad de Chron y Colitis Ulcerosa en el centro de investigaci\u00f3n CBGP, centro de Excelencia Severo Ochoa (2020). 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