Carrie Cibulskis

Clustered structural variant hotspots enable oncogenic addiction and plasticity in osteosarcoma

The paper identifies clustered structural variant hotspots in osteosarcoma, linking them to oncogenic addiction and plasticity through transcriptional changes and clinical detectability.

Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes

This study benchmarks six duplex sequencing technologies to evaluate their performance in detecting somatic mutations across different genomic contexts and tissue types.

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.