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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.
Biol Sex Differ. 2024 Oct 8;15(1):77. doi: 10.1186/s13293-024-00654-8.
Biol Sex Differ. 2024.
PMID: 39380113
Free PMC article.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Terkelsen T, Mikkelsen NS, Bak EN, Vad-Nielsen J, Blechingberg J, Weiss S, Drue SO, Andersen H, Andresen BS, Bak RO, Jensen UB.
Terkelsen T, et al. Among authors: drue so.
Am J Hum Genet. 2024 Feb 1;111(2):309-322. doi: 10.1016/j.ajhg.2023.12.024. Epub 2024 Jan 24.
Am J Hum Genet. 2024.
PMID: 38272032
Free PMC article.
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DREAMS: deep read-level error model for sequencing data applied to low-frequency variant calling and circulating tumor DNA detection.
Christensen MH, Drue SO, Rasmussen MH, Frydendahl A, Lyskjær I, Demuth C, Nors J, Gotschalck KA, Iversen LH, Andersen CL, Pedersen JS.
Christensen MH, et al. Among authors: drue so.
Genome Biol. 2023 Apr 30;24(1):99. doi: 10.1186/s13059-023-02920-1.
Genome Biol. 2023.
PMID: 37121998
Free PMC article.
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Error Characterization and Statistical Modeling Improves Circulating Tumor DNA Detection by Droplet Digital PCR.
Henriksen TV, Drue SO, Frydendahl A, Demuth C, Rasmussen MH, Reinert T, Pedersen JS, Andersen CL.
Henriksen TV, et al. Among authors: drue so.
Clin Chem. 2022 May 18;68(5):657-667. doi: 10.1093/clinchem/hvab274.
Clin Chem. 2022.
PMID: 35030248
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