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Jakob Woerner

dblp:424/4585 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2024
—ORCID · none

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 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 · 75% Medical and health informatics · 25%

Topics — the 4 heaviest of 5, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › network bioinformatics › biological network analysis
disease network analysis
0.812024
Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network · Bioinform. 2024
Bioinformatics and computational biology › statistical genetics › post-GWAS analysis
genetic correlation analysis
0.812024
Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network · Bioinform. 2024
Medical and health informatics › clinical data analysis
multimorbidity analysis
0.812024
Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network · Bioinform. 2024
Bioinformatics and computational biology
statistical genetics
0.812024
Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network · Bioinform. 2024

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

network construction · 0.8PheWAS summary statistics · 0.8
YearPublicationVenuePosition
2024 Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network
abstract
MOTIVATION: Many diseases, particularly cardiometabolic disorders, exhibit complex multimorbidities with one another. An intuitive way to model the connections between phenotypes is with a disease-disease network (DDN), where nodes represent diseases and edges represent associations, such as shared single-nucleotide polymorphisms (SNPs), between pairs of diseases. To gain further genetic understanding of molecular contributors to disease associations, we propose a novel version of the shared-SNP DDN (ssDDN), denoted as ssDDN+, which includes connections between diseases derived from genetic correlations with intermediate endophenotypes. We hypothesize that a ssDDN+ can provide complementary information to the disease connections in a ssDDN, yielding insight into the role of clinical laboratory measurements in disease interactions. RESULTS: Using PheWAS summary statistics from the UK Biobank, we constructed a ssDDN+ revealing hundreds of genetic correlations between diseases and quantitative traits. Our augmented network uncovers genetic associations across different disease categories, connects relevant cardiometabolic diseases, and highlights specific biomarkers that are associated with cross-phenotype associations. Out of the 31 clinical measurements under consideration, HDL-C connects the greatest number of diseases and is strongly associated with both type 2 diabetes and heart failure. Triglycerides, another blood lipid with known genetic causes in non-mendelian diseases, also adds a substantial number of edges to the ssDDN. This work demonstrates how association with clinical biomarkers can better explain the shared genetics between cardiometabolic disorders. Our study can facilitate future network-based investigations of cross-phenotype associations involving pleiotropy and genetic heterogeneity, potentially uncovering sources of missing heritability in multimorbidities. AVAILABILITY AND IMPLEMENTATION: The generated ssDDN+ can be explored at https://hdpm.biomedinfolab.com/ddn/biomarkerDDN.
Jakob Woerner, Vivek Sriram, Yonghyun Nam, Anurag Verma, Do Kyoon Kim
Bioinform.1