Dr. Tzung-Chien Hsieh
Principal Investigator
Postdoctoral researcher
Researches
Dr. Tzung-Chien Hsieh is currently working as a postdoctoral researcher at the Institute for Genomic Statistics and Bioinformatics at the University Hospital of Bonn in Germany. He received his bachelor’s and master’s degrees in Computer Science from the National Taiwan University. Later, he pursued his Ph.D. in Computer Science at the University of Bonn, completing it in 2022.
His primary research focuses on next-generation phenotyping (NGP) driven by deep learning for medical image analysis, particularly frontal image analysis for rare genetic disorders. Dr. Hsieh developed deep learning approaches and a medical imaging database for rare disorders. He published “GestaltMatcher” in Nature Genetics, a deep-learning framework that diagnoses rare genetic disorders by analyzing a patient’s frontal image. He further improved the performance of GestaltMatcher through model ensemble techniques and published this method at the Winter Conference on Application Computer Vision (WACV) in 2023. The groundbreaking works have garnered attention, leading to an invitation to a review paper on computational facial imaging analysis for rare disorders, published in American Journal of Medical Genetics in 2023.
In addition to NGP development, Dr. Hsieh built the “GestaltMatcher Database (GMDB),” which contains over 11,000 medical images representing 730 rare disorders and compliant with FAIR principles. GMDB involves collaboration with more than 300 clinicians across different countries and covering diverse populations. Furthermore, he integrated facial analysis into the exome variants prioritization pipeline, publishing “Prioritization of Exome Data by Image Analysis (PEDIA)” in Genetics in Medicine. This approach has been utilized in the diagnostics pipeline for patients with rare disorders in the German national healthcare project published in Nature Genetics in 2024.
As an international researcher, Dr. Hsieh have given talks at 16 international conferences, including prominent events such as the annual European Society of Human Genetics (ESHG), American College of Medical Genetics and Genomics (ACMG), German Conference on Bioinformatics, and Human Genetics Asia meetings. Moreover, Dr. Hsieh collaborated closely with clinician-scientists, contributing to the delineation of facial dysmorphism in 20 novel disorders.
Dr. Hsieh’s ongoing efforts include establishing global collaborations for the medical imaging database to facilitate the development of the NGP approach for rare disorders. His vision is to advance NGP technology while providing clinicians with a deeper understanding of this innovative field.
Dr. rer. nat. Tzung-Chien Hsieh
605
Venusberg-Campus 1 Building 11, 2nd Floor
53127 Bonn
Affiliation:
Institute for Genomic statistics and Bioinformatics - University Hospital Bonn, Germany
Curriculum vitae
07.2022 – now |
Postdoctoral Researcher, University Hospital of Bonn, Germany |
05.2017 – 07.2022 |
Ph.D. student of Computer Science, University of Bonn, Germany |
04.2016 – 04.2017 |
Research assistant, Max Planck Institute for Informatics, Saarland University, Germany. |
09.2013 – 05.2015 |
Software engineer, Garmin Corporation, Taiwan |
09.2011 – 09.2013 |
Master of Computer Science, National Taiwan University, Taiwan |
09.2007 – 06.2011 |
Bachelor of Computer Science, National Taiwan University, Taiwan |
Funded projects
Screening for Alagille Syndrome by facial image analysis with artificial intelligence
Period:
2024 - 2025
Leader:
Dr. Tzung-Chien Hsieh
Funder:
Ipsen, SPARK program
Publications
Selected publications with Dr. Hsieh as the first and corresponding author. Please find the full publication list in Google Scholar.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus M Nöthen, Peter M Krawitz
Nature Genetics, February 2024
PEDIA: prioritization of exome data by image analysis
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
Genetics in Medicine, June 2019
Improving deep facial phenotyping for ultra-rare disorder verification using model ensembles
Alexander Hustinx, Fabio Hellmann, Ömer Sümer, Behnam Javanmardi, Elisabeth André, Peter Krawitz, Tzung-Chien Hsieh
Proceedings of the IEEE/CVF winter conference on applications of computer vision (WACV), January 2023
Computational facial analysis for rare Mendelian disorders
Tzung‐Chien Hsieh, Peter M Krawitz
Review article in American Journal of Medical Genetics Part C: Seminars in Medical Genetics, August 2023
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, Peter M Krawitz, Tzung-Chien Hsieh
Genes, March 2024
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores
Tzung‐Chien Hsieh, Hellen Lesmann, Peter M Krawitz
Current Protocols, October 2023