Genetic & Genomic MedicinemedRxivPreprint
Genome-wide investigation of rare germline copy-number variants in retinoblastoma
Lesley M. Chapman, Jung Kim, Jazmyn L. Bess…·Zois Boukouvalas
The paper identifies rare germline copy-number variants associated with retinoblastoma risk outside the RB1 gene using whole-genome sequencing and statistical analysis.
DOI 10.1101/2024.11.19.24316720