Author
Uppsala UniversityORCID 0009-0001-9345-1358Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Adam Ameur, Fulya Taylan, Marlene Ek…·Hans Ehrencrona
This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.
Ann M. Mc Cartney, Giulio Formenti, Alice Mouton…·Zophonías Oddur Jónsson
The paper describes the European Reference Genome Atlas (ERGA) pilot project, which tests a decentralized model for producing high-quality reference genomes across 98 European species.
Marcus Danielsson, Jonatan Halvardson, Hanna Davies…·Lars Anders Forsberg
The paper introduces a method to estimate intra-individual changes in mosaic loss of chromosome Y (LOY) over time using standardized SNP-array data, showing higher correlation with other methods and significant individual variation.