Optical genome mapping identifies structural variants in potentially new cancer predisposition candidate genes in pediatric cancer patients
Rabea Wagener,
Danielle Brandes,
Marie Jung
et al.
Abstract:Genetic predisposition is one of the major risk factors for pediatric cancer, with ~10% of children being carriers of a predisposing germline alteration. It is likely that this is the tip of the iceberg and many children are underdiagnosed, as most of the analysis focuses on single or short nucleotide variants, not considering the full spectrum of DNA alterations. Hence, we applied optical genome mapping (OGM) to our cohort of 34 pediatric cancer patients to perform an unbiased germline screening and analyze t… Show more
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