Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumors
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Anna Byrjalsen, Astrid Marie Sehested, David Scheie, Torben Stamm Mikkelsen, Simon Rasmussen, Mads Bak, Henrik Okkels, Michael Thude Callesen, Jane Skjøth‐Rasmussen, Anne‐Marie Gerdes, Kjeld Schmiegelow, René Mathiasen, Karin Wadt
This study identifies 10% of pediatric CNS tumors as being caused by rare germline variants in known cancer predisposition genes through whole-genome sequencing and evolutionary constraint analysis.
medRxiv · Mar 1, 2022 · PreprintGenetic & Genomic Medicine