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

Autor: Agnethe Berglund, Emma B. Johannsen, Anne Skakkebæk, Simon Chang, Julia Rohayem, Sandra Laurentino, Arne Hørlyck, Simon O. Drue, Ebbe Norskov Bak, Jens Fedder, Frank Tüttelmann, Jörg Gromoll, Jesper Just, Claus H. Gravholt

Publikováno v: Biology of Sex Differences, Vol 15, Iss 1, Pp 1-16 (2024)

Abstract Background 46,XX testicular disorder/difference of sex development (46,XX DSD) is a rare congenital condition, characterized by a combination of the typical female sex chromosome constitution, 46,XX, and a variable male phenotype. In the maj

Externí odkaz: https://doaj.org/article/a87274221bac47398901277a729c969e

Error Characterization and Statistical Modeling Improves Circulating Tumor DNA Detection by Droplet Digital PCR

Autor: Tenna V Henriksen, Simon O Drue, Amanda Frydendahl, Christina Demuth, Mads H Rasmussen, Thomas Reinert, Jakob S Pedersen, Claus L Andersen

Publikováno v: Henriksen, T V, Drue, S O, Frydendahl, A, Demuth, C, Rasmussen, M H, Reinert, T, Pedersen, J S & Andersen, C L 2022, ' Error Characterization and Statistical Modeling Improves Circulating Tumor DNA Detection by Droplet Digital PCR ', Clinical Chemistry, vol. 68, no. 5, pp. 657-667 . https://doi.org/10.1093/clinchem/hvab274

Background Droplet digital PCR (ddPCR) is a widely used and sensitive application for circulating tumor DNA (ctDNA) detection. As ctDNA is often found in low abundance, methods to separate low-signal readouts from noise are necessary. We aimed to cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b25118c17a939f897506137d9dd6b5b
https://pubmed.ncbi.nlm.nih.gov/35030248