Jon Foss-Skiftesvik

Feb 22, 2023 | nature.com | Ulrik Kristoffer Stoltze |Jon Foss-Skiftesvik |Simon Rasmussen |Konrad J Karczewski

AbstractGermline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline genetic metadata from 4,574 children with cancer [11 studies; 1,083 whole exome sequences (WES), 1,950 whole genome sequences (WGS), and 1,541 gene panel] and 141,456 adults [125,748 WES and 15,708 WGS].