Adam Shlien

Accelerated and comprehensive pediatric cancer profiling using whole-genome sequencing with adaptive sampling

Abstract Background Timely and comprehensive molecular classification is essential for therapeutic decision-making in pediatric oncology, yet current diagnostic workflows rely on multi-step, time- and resource-intensive testing strategies. We present a standardized whole-genome s...

Extensive and differential platinum chemotherapy mutagenesis in livers of children

Childhood cancer survivors often experience late adverse effects that may be linked to chemotherapy mutagenesis. We studied chemotherapy mutagenesis in normal pediatric tissues using duplex sequencing (NanoSeq) to enable the detection of mutations from single DNA molecules. We fo...