M
Marten Jäger
Researcher at Charité
Publications - 34
Citations - 1961
Marten Jäger is an academic researcher from Charité. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 15, co-authored 27 publications receiving 1573 citations. Previous affiliations of Marten Jäger include Free University of Berlin & Max Planck Society.
Papers
More filters
Journal ArticleDOI
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter Krawitz,Peter Krawitz,Michal R. Schweiger,Michal R. Schweiger,Christian Rödelsperger,Christian Rödelsperger,Carlo Marcelis,Uwe Kölsch,Christian Meisel,Friederike Stephani,Taroh Kinoshita,Yoshiko Murakami,Sebastian Bauer,Melanie Isau,Axel Fischer,Andreas Dahl,Martin Kerick,Jochen Hecht,Jochen Hecht,Sebastian Köhler,Marten Jäger,Johannes Grünhagen,Birgit Jonske de Condor,Sandra C. Doelken,Han G. Brunner,Peter Meinecke,Eberhard Passarge,Miles D. Thompson,David E. C. Cole,Denise Horn,Tony Roscioli,Stefan Mundlos,Stefan Mundlos,Peter N. Robinson,Peter N. Robinson +34 more
TL;DR: Per whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in H PMR.
Journal ArticleDOI
Next-generation diagnostics and disease-gene discovery with the Exomiser
Damian Smedley,Julius O.B. Jacobsen,Marten Jäger,Sebastian Köhler,Manuel Holtgrewe,Max Schubach,Enrico Siragusa,Enrico Siragusa,Tomasz Zemojtel,Tomasz Zemojtel,Orion J. Buske,Nicole L. Washington,William P. Bone,Melissa A. Haendel,Peter N. Robinson +14 more
TL;DR: This protocol provides a detailed explanation of how to install Exomiser and use it to prioritize exome sequences in a number of scenarios, including novel disease-gene discovery or differential diagnosis of Mendelian disease.
Journal ArticleDOI
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Tomasz Zemojtel,Sebastian Köhler,Luisa Mackenroth,Marten Jäger,Jochen Hecht,Peter Krawitz,Luitgard Graul-Neumann,Sandra C. Doelken,Nadja Ehmke,Malte Spielmann,Nancy Christine Øien,Michal R. Schweiger,Ulrike Krüger,Götz Frommer,Björn Fischer,Uwe Kornak,Ricarda Flöttmann,Amin Ardeshirdavani,Yves Moreau,Suzanna E. Lewis,Melissa A. Haendel,Damian Smedley,Denise Horn,Stefan Mundlos,Peter N. Robinson +24 more
TL;DR: Next-generation sequencing of the DAG followed by phenotype-driven bioinformatic analysis allows quick and effective differential diagnostics in medical genetics, and the authors have made their tools available to the community.
Journal ArticleDOI
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Damian Smedley,Max Schubach,Julius O.B. Jacobsen,Sebastian Köhler,Tomasz Zemojtel,Tomasz Zemojtel,Malte Spielmann,Malte Spielmann,Marten Jäger,Harry Hochheiser,Nicole L. Washington,Julie A. McMurry,Melissa A. Haendel,Christopher J. Mungall,Suzanna E. Lewis,Tudor Groza,Tudor Groza,Giorgio Valentini,Peter N. Robinson +18 more
TL;DR: Genomiser is an analysis framework that is able not only to score the relevance of variation in the non-coding genome, but also to associate regulatory variants to specific Mendelian diseases.
Journal ArticleDOI
Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis
Christopher Maximilian Arends,Joel Galan-Sousa,Kaja Hoyer,Willy Chan,Marten Jäger,Kenichi Yoshida,Ricarda Seemann,Daniel Noerenberg,Nils Waldhueter,Helga Fleischer-Notter,Friederike Christen,Clemens A. Schmitt,Bernd Dörken,Uwe Pelzer,Marianne Sinn,Tomasz Zemojtel,Seishi Ogawa,Sven Märdian,Adrian Schreiber,Annegret Kunitz,Ulrike Krüger,Lars Bullinger,Elena Mylonas,Mareike Frick,Frederik Damm,Frederik Damm +25 more
TL;DR: The results provide novel insights into cellular distribution of clonal mutations, their dynamics under chemotherapy, and advocate for systematic analyses for CHIP in cancer patients.