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Stefan Konigorski

dblp:232/4177 · DBLP profile ↗
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2ranked-venue papers
0as first author
2since 2021 · last 2024
0000-0002-9966-6819ORCID · verified

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 2 · 2 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 88% Medical and health informatics · 12%

Topics — the 4 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genome-wide association study
0.612022
transferGWAS: GWAS of images using deep transfer learning · Bioinform. 2022
Bioinformatics and computational biology
imaging genetics
0.612022
transferGWAS: GWAS of images using deep transfer learning · Bioinform. 2022
Bioinformatics and computational biology › statistical genetics
genetic association study
0.212022
transferGWAS: GWAS of images using deep transfer learning · Bioinform. 2022
Medical and health informatics › medical imaging
medical image analysis
0.212022
transferGWAS: GWAS of images using deep transfer learning · Bioinform. 2022

Methods — techniques the papers use, named apart from their topics

representation learning · 0.6deep transfer learning · 0.6
YearPublicationVenuePosition
2024 Understanding random resampling techniques for class imbalance correction and their consequences on calibration and discrimination of clinical risk prediction models
Marco Piccininni, Maximilian Wechsung, Ben Van Calster, Jessica L. Rohmann, Stefan Konigorski, Maarten van Smeden
J. Biomed. Informatics5
2022 transferGWAS: GWAS of images using deep transfer learning
abstract
MOTIVATION: Medical images can provide rich information about diseases and their biology. However, investigating their association with genetic variation requires non-standard methods. We propose transferGWAS, a novel approach to perform genome-wide association studies directly on full medical images. First, we learn semantically meaningful representations of the images based on a transfer learning task, during which a deep neural network is trained on independent but similar data. Then, we perform genetic association tests with these representations. RESULTS: We validate the type I error rates and power of transferGWAS in simulation studies of synthetic images. Then we apply transferGWAS in a genome-wide association study of retinal fundus images from the UK Biobank. This first-of-a-kind GWAS of full imaging data yielded 60 genomic regions associated with retinal fundus images, of which 7 are novel candidate loci for eye-related traits and diseases. AVAILABILITY AND IMPLEMENTATION: Our method is implemented in Python and available at https://github.com/mkirchler/transferGWAS/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Matthias Kirchler, Stefan Konigorski, Matthias Norden, Christian Meltendorf, Marius Kloft, Claudia Schurmann, Christoph Lippert
Bioinform.2