Research output per year
Research output per year
Personal profile
Profile
I hold a BSc in Mathematics and an MSc in Statistics from Aarhus University. My research lies at the intersection of statistics and bioinformatics, with a particular focus on the analysis of data generated by long read sequencing technologies.
My main interests include the development and application of statistical and bioinformatic methods to investigate complex genetic phenomena such as STR expansions (Short Tandem Repeats), DNA methylation patterns, and structural variants in the genome. I am especially interested in how long read sequencing can provide deeper insights into genetic variation and its role in disease development and biological processes.
Areas of expertise
- Statistics
- Mathematics
- Bioinformatics
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Collaborations and top research areas from the last five years
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Research output
- 4 Journal article
-
CRISPR activation to characterize splice-altering variants in easily accessible cells
Terkelsen, T., Mikkelsen, N. S., Bak, E. N., Vad-Nielsen, J., Blechingberg, J., Weiss, S., Drue, S. O., Andersen, H., Andresen, B. S., Bak, R. O. & Jensen, U. B., 1 Feb 2024, In: American Journal of Human Genetics. 111, 2, p. 309-322 14 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access8 Citations (Scopus) -
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development
Berglund, A., Johannsen, E. B., Skakkebæk, A., Chang, S., Rohayem, J., Laurentino, S., Hørlyck, A., Drue, S. O., Bak, E. N., Fedder, J., Tüttelmann, F., Gromoll, J., Just, J. & Gravholt, C. H., Dec 2024, In: Biology of Sex Differences. 15, 1, 77.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access3 Citations (Scopus) -
Dreams: deep read-level error model for sequencing data applied to low-frequency variant calling and circulating tumor DNA detection
Christensen, M. H., Drue, S. O., Rasmussen, M. H., Frydendahl, A., Lyskjær, I., Demuth, C., Nors, J., Gotschalck, K. A., Iversen, L. H., Andersen, C. L. & Pedersen, J. S., Dec 2023, In: Genome Biology. 24, 1, p. 99 99.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access5 Citations (Scopus) -
Error Characterization and Statistical Modeling Improves Circulating Tumor DNA Detection by Droplet Digital PCR
Henriksen, T. V., Drue, S. O., Frydendahl, A., Demuth, C., Rasmussen, M. H., Reinert, T., Pedersen, J. S. & Andersen, C. L., May 2022, In: Clinical Chemistry. 68, 5, p. 657-667 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile16 Citations (Scopus)47 Downloads (Pure)