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Philipp Rentzsch

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Articles 5
Citations 1981
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Recent Articles
1.
Linner E, Czuba T, Gidlof O, Lundgren J, Bollano E, Hellberg M, et al.
Sci Rep . 2025 Feb; 15(1):4306. PMID: 39910139
The genetic contributions to early onset heart failure (HF) are incompletely understood. Genetic testing in advanced HF patients undergoing heart transplantation (HTx) may yield clinical benefits, but data is limited....
2.
Minaeva M, Domingo J, Rentzsch P, Lappalainen T
NAR Genom Bioinform . 2025 Jan; 7(1):lqae178. PMID: 39781510
Understanding the role of transcription and transcription factors (TFs) in cellular identity and disease, such as cancer, is essential. However, comprehensive data resources for cell line-specific TF-to-target gene annotations are...
3.
Rentzsch P, Kollotzek A, Mohammadi P, Lappalainen T
bioRxiv . 2024 Apr; PMID: 38645217
Differential expression (DE) analysis is a widely used method for identifying genes that are functionally relevant for an observed phenotype or biological response. However, typical DE analysis includes selection of...
4.
Minaeva M, Domingo J, Rentzsch P, Lappalainen T
bioRxiv . 2024 Jan; PMID: 38260658
Understanding the role of transcription and transcription factors in cellular identity and disease, such as cancer and autoimmunity, is essential. However, comprehensive data resources for cell line-specific transcription factor-to-target gene...
5.
Rentzsch P, Schubach M, Shendure J, Kircher M
Genome Med . 2021 Feb; 13(1):31. PMID: 33618777
Background: Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but...
6.
Quintero A, Hubschmann D, Kurzawa N, Steinhauser S, Rentzsch P, Kramer S, et al.
Biol Methods Protoc . 2020 Dec; 5(1):bpaa022. PMID: 33376806
Non-negative matrix factorization (NMF) has been widely used for the analysis of genomic data to perform feature extraction and signature identification due to the interpretability of the decomposed signatures. However,...
7.
Rentzsch P, Witten D, Cooper G, Shendure J, Kircher M
Nucleic Acids Res . 2018 Oct; 47(D1):D886-D894. PMID: 30371827
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders. CADD...