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Clinical genomics

Exome and genome analysis has long been used for research purposes at the Institute of Medical Genetics and Human Genetics and is increasingly developing as an important component of clinical diagnostics. Compared to conventional methods (single gene analysis, chromosome analysis, array CGH), exome and genome analysis enables a higher diagnosis rate and allows the detection of new disease genes.

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Clinical genomics

As part of a contract with some national health insurance companies, an exome analysis can be performed if a rare, genetic disease is suspected. 

This is done in cooperation with Labor Berlin - Charité Vivantes GmbH. In the course of an exome analysis, the coding regions of the genome are analyzed. It can be used for patients without a diagnosis and no available gene panel analysis. For the correct assessment of detected variants, a precise definition of clinical information about the index patient in Human Phenotype Ontology (HPO) format is required.

The exome analysis at the Institute of Medical Genetics and Human Genetics is carried out in close cooperation with the Berlin Centre for Rare Diseases  and the Core Unit Bioinformatics of the BIH. The use of exome diagnostics in clinical care has been successfully tested within the framework of the innovation fund project TRANSLATE-NAMSE.

For some questions there is the additional possibility to evaluate the exome data in the context of studies on a research basis as well as to perform complementary genome sequencing. Please contact us for further information.

The Institute of Medical Genetics and Human Genetics was involved in the development of several bioinformatic tools for the prioritization and evaluation of sequence variants detected in exome and genome analyses and is working on their continuous improvement.

Head of working group: PD Dr. med. Nadja Ehmke 

Further contact persons

Dr. med. Felix Boschann 

Dr. med. Henrike Sczakiel 

Dr. med. Magdalena Danyel 

Dr. med. Ronja Adam

Max Zhao

Angela Abad-Perez


Contact person

Selected publications

  • Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer-Zirnsak, Felix Boschann, Ute Scholl, Nadja Ehmke, Dieter Beule

    VarFish: comprehensive DNA variant analysis for diagnostics and research

    Nucleic Acids Res. 2020; 48(W1):W162-W169.
  • Tzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi B Bentzen, Saskia Biskup, Oleg Borisov, Oivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer-Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul-Neumann, Karen W Gripp, Yaron Gurovich, Asya Gusina, Nechama Haddad Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, Alexander Lavrov, Maximilian Leitheiser, Gholson J Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martinez Carrascal, Diana Mitter, Laura Morlan Herrador, Guy Nadav, Markus Nöthen, Alfredo Orrico, Claus-Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas-Rothschild, Linda Randolph , Nicole Revencu, Christina Ringmann Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Gorazd Rudolf, Ulrich Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin-Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T Thiel, Gundula Thiel, Alain Verloes, Irena Vrecar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming W Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter M Krawitz

    PEDIA: prioritization of exome data by image analysis

    Genet Med. 2019; 21:2807-2814.
  • Daniela Hombach, Markus Schuelke, Ellen Knierim, Nadja Ehmke, Jana Marie Schwarz, Björn Fischer-Zirnsak, Dominik Seelow

    MutationDistiller: user-driven identification of pathogenic DNA variants

    Nucleic Acids Res. 2019; 47(W1):W114-W120.
  • Tomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Oien, Michal R Schweiger, Ulrike Krüger, Götz Frommer, Björn Fischer, Uwe Kornak, Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna E Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N Robinson

    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    Sci Transl Med. 2014; 6(252):252ra123.