Genome-wide investigation of rare germline copy-number variants in retinoblastoma
Lesley M. Chapman, Jung Kim, Jazmyn L. Bess, Sungduk Kim, Paul S. Albert, Nathalie Japkowicz, Douglas R. Stewart, 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.
medRxiv · Nov 19, 2024 · PreprintGenetic & Genomic Medicine