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.

Avatar Hsieh

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


Peer-review activities

  • Computational and Structural Biotechnology Journal
  • Pediatric Research
  • PloS one
  • The application of clinical genetics

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


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