Genetic & Genomic MedicinemedRxivPreprint
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…·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.
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