{"id":7728,"date":"2016-03-24T10:26:57","date_gmt":"2016-03-24T09:26:57","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/en\/forschung\/m-team\/"},"modified":"2023-07-31T09:22:24","modified_gmt":"2023-07-31T07:22:24","slug":"mm-team","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/mm-team\/","title":{"rendered":"MM Team"},"content":{"rendered":"
[mk_page_section bg_image=”https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/03\/LHA9882-M-Team-1900.jpg” bg_position=”center center” bg_repeat=”no-repeat” bg_stretch=”true” min_height=”600″ full_width=”true” sidebar=”sidebar-1″][vc_column][\/vc_column][\/mk_page_section][mk_page_section sidebar=”sidebar-1″][vc_column][vc_empty_space height=”50px”][vc_column_text]\n

\u00a0MutationMining Team<\/span><\/h1>\n[\/vc_column_text][vc_empty_space height=”15px”][vc_row_inner][vc_column_inner][vc_column_text css=”.vc_custom_1690788141717{margin-bottom: 0px !important;}”]New high-throughput technologies and, above all, the next generation sequencing (NGS) technologies of whole-genome and whole-exome sequencing have made it easier to discover disease-associated genes and disease-causing mutations. Our MutationMining (MM) Team searches the data generated by NGS-based analyses to detect novel causative genes and mutations in patients with various rare genetic diseases and undiagnosed congenital syndromes.<\/p>\n

The MutationMining strategy relies on an innovative bioinformatics pipeline and a multidisciplinary team of clinicians and researchers who collaboratively analyze the data and interpret the relevance of identified variants. This has proven to be a successful approach, leading to the identification of many disease-associated genes. In patients who had remained unsolved by previous genetic testing and whose data were then analyzed by the MM team on a research basis, we have identified new disease-associated genes or established a molecular diagnosis in more than 60 % of cases.<\/p>\n

The MM team also aims to establish sustainable clinical and bioinformatics strategies for interpretation of potentially causative variants in whole-genome\/exome sequencing, to define standardized procedures and to assure quality standards. Additionally, we work on developing structured and standardized diagnostic algorithms (indication criteria) to perform NGS-based whole-genome\/exome sequencing in children and adults with an unclear diagnosis.<\/p>\n

MM Team Leader<\/b><\/span>
\nDr. Yun Li, Tel. +49-551-39-65129<\/a>, yun.li@med.uni-goettingen.de<\/a><\/span><\/p>\n

MM Team Members<\/b><\/span>
\nHalima Alachram, Loukas Argyriou, Berenike B\u00f6geholz, Nina B\u00f6gershausen, Karin Bo\u00df, Peter Burfeind, Marianne Gaubert, \u0130pek Ilg\u0131n G\u00f6nen\u00e7, Fabienne Heese, Irem Kalay, Silke Kaulfu\u00df, Uwe Kornak, Alexandr Kuranov, Maria Kuzyakova, Yun Li, Yasmin Mehraein, Christian M\u00fcller, Daniel Owrang, Silke Pauli, Julia Schmidt, Svenja Vishniola, Barbara Vona, Alexander Wolff, Bernd Wollnik, G\u00f6khan Yigit, Arne Zibat<\/p>\n

Novel disease-associated genes identified (selected)<\/b><\/span>
\nANO6<\/em>, BRD3<\/em>, KNTC1<\/em>, NARF<\/em>, MESDC2<\/em>, PPM1D<\/em>, RMI1<\/em>, SEC24D<\/em>, SMCHD1<\/em>, SUZ12<\/em>, TRAIP<\/em>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][vc_row][vc_column][vc_empty_space height=”100px”][\/vc_column][\/vc_row]\n<\/div>","protected":false},"excerpt":{"rendered":"

[mk_page_section bg_image=”https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/03\/LHA9882-M-Team-1900.jpg” bg_position=”center center” bg_repeat=”no-repeat” bg_stretch=”true” min_height=”600″ full_width=”true” sidebar=”sidebar-1″][vc_column][\/vc_column][\/mk_page_section][mk_page_section sidebar=”sidebar-1″][vc_column][vc_empty_space height=”50px”][vc_column_text] \u00a0MutationMining Team [\/vc_column_text][vc_empty_space height=”15px”][vc_row_inner][vc_column_inner][vc_column_text css=”.vc_custom_1690788141717{margin-bottom: 0px !important;}”]New high-throughput technologies and, above all, the next generation sequencing (NGS) technologies of whole-genome and whole-exome sequencing have made it easier to discover disease-associated genes and disease-causing mutations. Our MutationMining (MM) Team searches the data generated by NGS-based […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":7663,"menu_order":3,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-7728","page","type-page","status-publish","hentry"],"yoast_head":"\nMM Team - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Our multidisciplinary MM team searches for novel causative genes and mutations in rare diseases and undiagnosed congenital syndromes.\" \/>\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.humangenetik-umg.de\/en\/research\/mm-team\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MM Team - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Our multidisciplinary MM team searches for novel causative genes and mutations in rare diseases and undiagnosed congenital syndromes.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/research\/mm-team\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:modified_time\" content=\"2023-07-31T07:22:24+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/research\/mm-team\/\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/research\/mm-team\/\",\"name\":\"MM Team - 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