Pathogenicity evaluation of coding germline variants identifies rare alleles enriched in hematological patients of a founder population
Jessica Koski, Laura Langohr, Tuulia Räisänen, Atte Lahtinen, Marja Hakkarainen, Caroline Akemi Heckman, Ulla Wartiovaara‐Kautto, Esa Pitkänen, Outi Kilpivaara
The paper evaluates germline variants in hematological malignancies using a computational pipeline, identifying pathogenic alleles and enriched variants in CHEK2 and other genes.
medRxiv · Oct 23, 2024 · PreprintGenetic & Genomic Medicine