Sebastian Roner
Overview
Explore the profile of Sebastian Roner including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
72
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0
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Recent Articles
1.
Roner S, Burkard L, Speicher M, Kircher M
Gigascience
. 2024 Dec;
13.
PMID: 39704700
Background: Cell-free DNA (cfDNA), a broadly applicable biomarker commonly sourced from urine or blood, is extensively used for research and diagnostic applications. In various settings, genetic and epigenetic information is...
2.
Schubach M, Maass T, Nazaretyan L, Roner S, Kircher M
Nucleic Acids Res
. 2024 Jan;
52(D1):D1143-D1154.
PMID: 38183205
Machine Learning-based scoring and classification of genetic variants aids the assessment of clinical findings and is employed to prioritize variants in diverse genetic studies and analyses. Combined Annotation-Dependent Depletion (CADD)...
3.
Spiegl B, Kapidzic F, Roner S, Kircher M, Speicher M
NAR Genom Bioinform
. 2023 Nov;
5(4):lqad102.
PMID: 38025047
Analyses of cell-free DNA (cfDNA) are increasingly being employed for various diagnostic and research applications. Many technologies aim to increase resolution, e.g. for detecting early-stage cancer or minimal residual disease....
4.
Schmidt A, Roner S, Mai K, Klinkhammer H, Kircher M, Ludwig K
Bioinformatics
. 2023 Apr;
39(5).
PMID: 37084271
Motivation: Missense variants are a frequent class of variation within the coding genome, and some of them cause Mendelian diseases. Despite advances in computational prediction, classifying missense variants into pathogenic...
5.
Syed A, Sansone A, Roner S, Bozorg Nia S, Manzini I, Korsching S
Sci Rep
. 2015 Sep;
5:13935.
PMID: 26358883
Olfactory perception is mediated by a multitude of olfactory receptors, whose expression in the sensory surface, the olfactory epithelium, is spatially regulated. A common theme is the segregation of different...