Erica E. Tassone

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

The paper identifies genomic subtypes of multiple myeloma using the MMRF CoMMpass study and finds that 25.5% of patients transition to a high-risk expression subtype at progression, which expresses immunotherapy targets.

ACValidator validates circRNAs by assembling reads around junctions and aligning contigs to detect back-spliced junctions, achieving high sensitivity and specificity in simulated and experimental datasets.

LumosVar 2.0 improves somatic variant calling by jointly analyzing tumor and adjacent normal samples without a germline reference.