Postdoctoral Fellow
BIOGRAPHY
JAN 13, 2022 8:40 AM PST
Enlightening the Dark Matter of the Genome: Optical Genome Mapping Identifies a Germline Retrotransposon Insertion in SMARCB1 in Two Siblings with Atypical Teratoid Rhabdoid Tumors
Presented at:
Bionano Genomics 2022 Symposium
Speaker
Abstract
In a subset of pediatric cancers, the causative germline cancer predisposition mutations remain unidentified because they are hidden in the dark matter of the genome. As consequence, genetic counseling and predictive testing in those families are seriously hampered.
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