Steven Roels

TL;DR: Measurements of TMB from comprehensive genomic profiling are strongly reflective of measurements from whole exome sequencing and model that below 0.5 Mb the variance in measurement increases significantly, demonstrating that many disease types have a substantial portion of patients with high TMB who might benefit from immunotherapy.

TL;DR: Analysis of tumor genomic profiles from 38,028 patients is reported to identify 221 cases with METex14 mutations, including 126 distinct sequence variants, and identify a unique subset of patients likely to derive benefit from MET inhibitors.

TL;DR: A novel next-generation sequencing-based assay to identify all classes of genomic alterations using archived formalin-fixed paraffin-embedded blood and bone marrow samples with high accuracy in a clinically relevant time frame is developed, which increases the ability to identify clinically relevant genomic alterations with therapeutic relevance.

TL;DR: BRAF fusions are rare driver alterations in a wide variety of malignant neoplasms, but enriched in Spitzoid melanoma, pilocytic astrocytomas, pancreatic acinar and papillary thyroid cancers.

TL;DR: High-sequencing coverage and molecular barcode–based error detection enabled accurate detection of genomic alterations, including short variants (base substitutions, short insertions/deletions) and genomic re-arrangements at low allele frequencies (AFs), and copy number amplifications in FoundationACT.