{"id":2273,"date":"2021-05-06T00:00:00","date_gmt":"2021-05-06T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2273"},"modified":"2021-05-06T00:00:00","modified_gmt":"2021-05-06T00:00:00","slug":"new-centomdr-60-update-brings-deeper-insights-into-rare-diseases","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/new-centomdr-60-update-brings-deeper-insights-into-rare-diseases\/","title":{"rendered":"Nowa aktualizacja CentoMD\u00ae 6.0 zapewnia g\u0142\u0119bszy wgl\u0105d w choroby rzadkie"},"content":{"rendered":"<ul> <\/ul>\n<ul>\n<li>Database has grown to more than 465,000 analyzed patients, with more than 225,000 being linked to HPO terms<\/li>\n<li>Release includes increase of almost 19 million to over 31 million unique variants<\/li>\n<li>New features, including variant classification based on ACMG guidelines and streamlined HPO search tools, help to accelerate diagnosis and expand on resources for orphan drug development<\/li>\n<li>New biochemistry module expands on previous genetic testing foundation to further fuel the knowledge base of rare diseases<\/li>\n<li>HPO source code released for free use globally<\/li>\n<\/ul>\n<p>CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 06, 2020 (GLOBE NEWSWIRE) \u2013 Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies, today announced the release of CentoMD<sup>\u00ae<\/sup> 6.0&nbsp; \u0336&nbsp; the Company\u2019s rare disease database powered by its Bio\/Databank. Equipped with new features, the database serves as one of the world\u2019s largest sources of information for rare diseases \u2013 having grown to more than 465,000 analyzed patients from 120 countries.<\/p>\n<p>This latest update underlines the Company\u2019s continuous commitment to unlocking the deepest insights into rare diseases. CentoMD 6.0 has grown to include more than 31 million unique variants, an increase of 150% since the last release in 2020 \u2013 significantly driven by detection via Whole Genome Sequencing (WGS). The number of classified and curated variants has also increased by nearly 80% to more than 145,000, approximately 65% of which were previously unpublished.<\/p>\n<p>Ensuring users have the best access to information at their fingertips, the latest CentoMD update includes new and improved features, including:<\/p>\n<ul>\n<li>Updated classification tool according to ACMG guideline evidences to classify each curated variant<\/li>\n<li>Visualized branching structure for HPO parent and child terms to enhance searchability<\/li>\n<li>Integrated module to display individuals who have undergone biochemical testing<\/li>\n<\/ul>\n<p>To better support the rare disease community, the Company has also released the <a href=\"https:\/\/github.com\/Centogene\" target=\"_blank\" title=\"Link to the source\">HPO-similarity source<\/a> code as free open-source on the platform. CENTOGENE hopes that this will help scientists around the world and set the standard for clear universal HPO term usage \u2013 further enhancing collaboration between researchers.<\/p>\n<p>Bettina Goerner, Chief Data Officer at CENTOGENE, said, \u201cCurrently, rare disease patients spend an average of over eight years to receive a diagnosis. At CENTOGENE, we are committed to significantly accelerating this process. To do that, we have created a unique database of the most detailed, evidence-based genetic, proteomic, and metabolic information. From here, we are able to help our physicians and partners translate data into real-life medical solutions.\u201d<\/p>\n<p>Krishna Kumar Kandaswamy, CENTOGENE\u2019s Senior Director of R&amp;D Bioinformatics, added, \u201cWe are convinced that to make a true impact in diagnosing patients, we also have to understand the rare diseases themselves. This requires the combination of rich data and advanced technology \u2013 allowing us to dig deep and establish advanced insights into rare diseases.\u201d<\/p>\n<h2 class=\"h3\">O firmie CENTOGENE<strong> <\/strong><\/h2>\n<p>CENTOGENE zajmuje si\u0119 diagnostyk\u0105 i badaniami nad chorobami rzadkimi, przekszta\u0142caj\u0105c rzeczywiste dane kliniczne i genetyczne w praktyczne informacje dla pacjent\u00f3w, lekarzy i firm farmaceutycznych. Naszym celem jest racjonalizacja decyzji terapeutycznych i przyspieszenie rozwoju nowych lek\u00f3w sierocych, wykorzystuj\u0105c nasz\u0105 rozleg\u0142\u0105 wiedz\u0119 na temat chor\u00f3b rzadkich, w tym dane epidemiologiczne i kliniczne, a tak\u017ce innowacyjne biomarkery. CENTOGENE opracowa\u0142o globaln\u0105, autorsk\u0105 platform\u0119 chor\u00f3b rzadkich opart\u0105 na naszym repozytorium danych z rzeczywistego \u015bwiata, obejmuj\u0105cym ponad 3,9 miliarda wa\u017conych punkt\u00f3w danych od oko\u0142o 600 000 pacjent\u00f3w z ponad 120 kraj\u00f3w (stan na 31 grudnia 2020 r.).<\/p>\n<p>Platforma firmy obejmuje dane epidemiologiczne, fenotypowe i genetyczne, kt\u00f3re odzwierciedlaj\u0105 globaln\u0105 populacj\u0119, a tak\u017ce biobank pr\u00f3bek krwi tych pacjent\u00f3w. CENTOGENE uwa\u017ca, \u017ce jest to jedyna platforma, kt\u00f3ra kompleksowo analizuje dane wielopoziomowe w celu lepszego zrozumienia rzadkich chor\u00f3b dziedzicznych, co mo\u017ce pom\u00f3c w identyfikacji pacjent\u00f3w i usprawni\u0107 proces wprowadzania lek\u00f3w sierocych na rynek przez naszych partner\u00f3w farmaceutycznych. Na dzie\u0144 31 grudnia 2020 r. firma wsp\u00f3\u0142pracowa\u0142a z ponad 30 partnerami farmaceutycznymi.<\/p>\n<h5>Wa\u017cna informacja i wy\u0142\u0105czenie odpowiedzialno\u015bci<\/h5>\n<p>Niniejsza informacja prasowa zawiera stwierdzenia stanowi\u0105ce \u201cstwierdzenia dotycz\u0105ce przysz\u0142o\u015bci\u201d zgodnie z definicj\u0105 tego terminu zawart\u0105 w ameryka\u0144skiej ustawie o reformie przepis\u00f3w procesowych dotycz\u0105cych papier\u00f3w warto\u015bciowych z 1995 r. (Private Securities Litigation Reform Act of 1995), w tym stwierdzenia wyra\u017caj\u0105ce opinie, oczekiwania, przekonania, plany, cele, za\u0142o\u017cenia lub prognozy Sp\u00f3\u0142ki dotycz\u0105ce przysz\u0142ych zdarze\u0144 lub wynik\u00f3w, w przeciwie\u0144stwie do stwierdze\u0144 odzwierciedlaj\u0105cych fakty historyczne. Przyk\u0142adami s\u0105 om\u00f3wienia naszych strategii, plan\u00f3w finansowania, mo\u017cliwo\u015bci rozwoju i wzrostu rynku. W niekt\u00f3rych przypadkach takie stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci mo\u017cna zidentyfikowa\u0107 po terminologii, takiej jak \u201cprzewidywa\u0107\u201d, \u201czamierza\u0107\u201d, \u201cwierzy\u0107\u201d, \u201cszacowa\u0107\u201d, \u201cplanowa\u0107\u201d, \u201cd\u0105\u017cy\u0107\u201d, \u201cprognozowa\u0107\u201d lub \u201coczekiwa\u0107\u201d, \u201cmo\u017ce\u201d, \u201cb\u0119dzie\u201d, \u201cm\u00f3g\u0142by\u201d, \u201cpowinien\u201d \u2013 formy przecz\u0105ce tych termin\u00f3w lub podobne. Stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci oparte s\u0105 na aktualnych przekonaniach i za\u0142o\u017ceniach kierownictwa oraz na informacjach, do kt\u00f3rych Sp\u00f3\u0142ka ma obecnie dost\u0119p. Jednak\u017ce te stwierdzenia dotycz\u0105ce przysz\u0142o\u015bci nie stanowi\u0105 gwarancji naszych wynik\u00f3w i nie nale\u017cy na nich nadmiernie polega\u0107. O\u015bwiadczenia prognostyczne podlegaj\u0105 licznym ryzykom, niepewno\u015bciom i innym zmiennym okoliczno\u015bciom, takim jak niekorzystne warunki gospodarcze na \u015bwiecie oraz ci\u0105g\u0142a niestabilno\u015b\u0107 i zmienno\u015b\u0107 na \u015bwiatowych rynkach finansowych, wp\u0142yw pandemii COVID-19 na nasz\u0105 dzia\u0142alno\u015b\u0107 i wyniki operacyjne, mo\u017cliwe zmiany w obowi\u0105zuj\u0105cych i proponowanych przepisach, regulacjach i polityce rz\u0105dowej, presja wynikaj\u0105ca z rosn\u0105cej konkurencji i konsolidacji w naszej bran\u017cy, koszty i niepewno\u015b\u0107 zwi\u0105zana z uzyskaniem zgody organ\u00f3w regulacyjnych, w tym Ameryka\u0144skiej Agencji ds. \u017bywno\u015bci i Lek\u00f3w (FDA), nasze uzale\u017cnienie od podmiot\u00f3w zewn\u0119trznych i partner\u00f3w, w tym nasza zdolno\u015b\u0107 do zarz\u0105dzania wzrostem i nawi\u0105zywania nowych relacji z klientami, nasza zale\u017cno\u015b\u0107 od bran\u017cy chor\u00f3b rzadkich, nasza zdolno\u015b\u0107 do zarz\u0105dzania ekspansj\u0105 mi\u0119dzynarodow\u0105, nasza zale\u017cno\u015b\u0107 od kluczowego personelu, nasza zale\u017cno\u015b\u0107 od ochrony w\u0142asno\u015bci intelektualnej, wahania naszych wynik\u00f3w operacyjnych spowodowane wp\u0142ywem kurs\u00f3w walutowych lub innymi czynnikami. Takie ryzyka i niepewno\u015bci mog\u0105 spowodowa\u0107, \u017ce o\u015bwiadczenia b\u0119d\u0105 niedok\u0142adne, a czytelnik\u00f3w ostrzega si\u0119 przed nadmiernym poleganiem na takich o\u015bwiadczeniach. Wiele z tych ryzyk jest poza kontrol\u0105 Sp\u00f3\u0142ki i mo\u017ce spowodowa\u0107, \u017ce jej rzeczywiste wyniki b\u0119d\u0105 istotnie r\u00f3\u017cni\u0107 si\u0119 od tych, kt\u00f3rych si\u0119 spodziewa\u0142a. O\u015bwiadczenia prognostyczne zawarte w niniejszym komunikacie prasowym s\u0105 aktualne wy\u0142\u0105cznie na dzie\u0144 jego publikacji. Sp\u00f3\u0142ka nie zobowi\u0105zuje si\u0119, a w szczeg\u00f3lno\u015bci nie zobowi\u0105zuje si\u0119 do aktualizacji takich o\u015bwiadcze\u0144 ani do publicznego og\u0142aszania skutk\u00f3w jakichkolwiek zmian w tych o\u015bwiadczeniach w celu odzwierciedlenia przysz\u0142ych zdarze\u0144 lub wydarze\u0144, z wyj\u0105tkiem przypadk\u00f3w wymaganych przez prawo.<\/p>\n<p>Wi\u0119cej informacji mo\u017cna znale\u017a\u0107 w sekcji \u201eCzynniki ryzyka\u201d w naszym Raporcie Rocznym za rok obrotowy zako\u0144czony 31 grudnia 2020 r., na Formularzu 20-F z\u0142o\u017conym w Komisji Papier\u00f3w Warto\u015bciowych i Gie\u0142d (SEC) 15 kwietnia 2021 r., a tak\u017ce w innych bie\u017c\u0105cych raportach i dokumentach przekazanych lub z\u0142o\u017conych w Komisji Papier\u00f3w Warto\u015bciowych i Gie\u0142d (SEC). Dokumenty te mo\u017cna uzyska\u0107 na stronie EDGAR. <a href=\"http:\/\/www.sec.gov\" target=\"_blank\" title=\"Link SEC website\">na stronie internetowej SEC.<\/a><\/p>\n<h5>Kontakt dla medi\u00f3w:<\/h5>\n<p>CENTOGENE<br \/> Ben Legg<br \/> Komunikacja korporacyjna<br \/> <a href=\"mailto:press@centogene.com\" title=\"Napisz e-mail\">press@centogene.com<\/a><\/p>\n<p>Doradztwo FTI<br \/> Bridie Lawlor O&#039;Boyle<br \/> +1.917.929.5684<br \/> <a href=\"mailto:bridie.lawlor@fticonsulting.com\" title=\"Napisz e-mail\">bridie.lawlor@fticonsulting.com<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Database has grown to more than 465,000 analyzed patients, with more than 225,000 being linked to HPO terms Release includes [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2273","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>New CentoMD\u00ae 6.0 Update Brings Deeper Insights Into Rare Diseases | CENTOGENE<\/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:\/\/www.centogene.com\/pl\/new-centomdr-60-update-brings-deeper-insights-into-rare-diseases\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta 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