Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
Alexandra Baumann, Christian Ruckert, Christoph Meier, Tim Hutschenreiter, Robert Remy, Benedikt Schnur, Marvin Döbel, Rudel Christian Nkouamedjo Fankep, Dariush Skowronek, Oliver Kutz, Norbert Arnold, Anna-Lena Katzke, Michael Forster, Anna-Lena Kobiela, Katharina Thiedig, , Corinna Ernst
This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.
European Journal of Human Genetics · Jun 21, 2024Peer-reviewedGenetic & Genomic Medicine