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Claudia Schurmann

dblp:324/8111 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2022
—ORCID · unresolved

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 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
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.6