Martin Kircher
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Explore the profile of Martin Kircher including associated specialties, affiliations and a list of published articles.
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83
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16019
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Recent Articles
1.
Keukeleire P, Rosen J, Gobel-Knapp A, Salomon K, Schubach M, Kircher M
BMC Bioinformatics
. 2025 Feb;
26(1):52.
PMID: 39948460
Background: Massively parallel reporter assays (MPRAs) are an experimental technology for measuring the activity of thousands of candidate regulatory sequences or their variants in parallel, where the activity of individual...
2.
Agarwal V, Inoue F, Schubach M, Penzar D, Martin B, Dash P, et al.
Nature
. 2025 Jan;
639(8054):411-420.
PMID: 39814889
The human genome contains millions of candidate cis-regulatory elements (cCREs) with cell-type-specific activities that shape both health and many disease states. However, we lack a functional understanding of the sequence...
3.
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...
4.
Lazzeri I, Spiegl B, Hasenleithner S, Speicher M, Kircher M
Comput Struct Biotechnol J
. 2024 Dec;
23:3163-3174.
PMID: 39660220
Motivation: The analysis of circulating cell-free DNA (cfDNA) holds immense promise as a non-invasive diagnostic tool across various human conditions. However, extracting biological insights from cfDNA fragments entails navigating complex...
5.
Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, et al.
bioRxiv
. 2024 Apr;
PMID: 38659854
The human genome contains millions of retrotransposons, several of which could become active due to somatic mutations having phenotypic consequences, including disease. However, it is not thoroughly understood how nucleotide...
6.
Balachandran S, Prada-Medina C, Mensah M, Glaser J, Kakar N, Nagel I, et al.
Am J Hum Genet
. 2024 Mar;
111(3):618.
PMID: 38458167
No abstract available.
7.
Balachandran S, Prada-Medina C, Mensah M, Kakar N, Nagel I, Pozojevic J, et al.
Am J Hum Genet
. 2024 Jan;
111(2):338-349.
PMID: 38228144
Clinical exome and genome sequencing have revolutionized the understanding of human disease genetics. Yet many genes remain functionally uncharacterized, complicating the establishment of causal disease links for genetic variants. While...
8.
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)...
9.
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....
10.
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...