Christian Mertes
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Explore the profile of Christian Mertes including associated specialties, affiliations and a list of published articles.
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16
Citations
655
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Recent Articles
1.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain
. 2025 Feb;
PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
2.
Hanssen F, Gabernet G, Bauerle F, Stocker B, Wiegand F, Smith N, et al.
F1000Res
. 2024 Sep;
12:1125.
PMID: 39345270
We present the results of the human genomic small variant calling benchmarking initiative of the German Research Foundation (DFG) funded Next Generation Sequencing Competence Network (NGS-CN) and the German Human...
3.
Meissgeier T, Kappelmann-Fenzl M, Staebler S, Ahari A, Mertes C, Gagneur J, et al.
Cell Prolif
. 2024 Aug;
58(2):e13741.
PMID: 39212334
Abnormalities in alternative splicing are a hallmark of cancer formation. In this study, we investigated the role of the splicing factor PHD finger protein 5A (PHF5A) in melanoma. Malignant melanoma...
4.
Scheller I, Lutz K, Mertes C, Yepez V, Gagneur J
Am J Hum Genet
. 2023 Nov;
110(12):2056-2067.
PMID: 38006880
Detection of aberrantly spliced genes is an important step in RNA-seq-based rare-disease diagnostics. We recently developed FRASER, a denoising autoencoder-based method that outperformed alternative methods of detecting aberrant splicing. However,...
5.
Brechtmann F, Bechtler T, Londhe S, Mertes C, Gagneur J
NAR Genom Bioinform
. 2023 Nov;
5(4):lqad095.
PMID: 37942285
Functional gene embeddings, numerical vectors capturing gene function, provide a promising way to integrate functional gene information into machine learning models. These embeddings are learnt by applying self-supervised machine-learning algorithms...
6.
Wagner N, Celik M, Holzlwimmer F, Mertes C, Prokisch H, Yepez V, et al.
Nat Genet
. 2023 May;
55(5):861-870.
PMID: 37142848
Aberrant splicing is a major cause of genetic disorders but its direct detection in transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While DNA-based machine...
7.
Scheller I, Lutz K, Mertes C, Yepez V, Gagneur J
medRxiv
. 2023 Apr;
PMID: 37066374
Detection of aberrantly spliced genes is an important step in RNA-seq-based rare disease diagnostics. We recently developed FRASER, a denoising autoencoder-based method for aberrant splicing detection that outperformed alternative approaches....
8.
Mertes C, Scheller I, Yepez V, Celik M, Liang Y, Kremer L, et al.
Nat Commun
. 2022 Jun;
13(1):3474.
PMID: 35710804
No abstract available.
9.
Yepez V, Gusic M, Kopajtich R, Mertes C, Smith N, Alston C, et al.
Genome Med
. 2022 Apr;
14(1):38.
PMID: 35379322
Background: Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES)....
10.
Mertes C, Scheller I, Yepez V, Celik M, Liang Y, Kremer L, et al.
Nat Commun
. 2021 Jan;
12(1):529.
PMID: 33483494
Aberrant splicing is a major cause of rare diseases. However, its prediction from genome sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven to be an effective...