PURPOSE The combination of whole-genome and transcriptome sequencing (WGTS) is
expected to transform diagnosis and treatment for patients with cancer. WGTS is a …

The somatic mutations in each cancer genome are caused by multiple mutational
processes, each of which leaves a characteristic imprint (or 'signature'), potentially caused …

Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-
risk disease. Here, we used a three-platform sequencing approach, including whole …

Homologous recombination deficiency (HRD) results in impaired double strand break repair
and is a frequent driver of tumorigenesis. Here, we develop a genome-wide mutational scar …

Mutational signatures are patterns of mutations that arise during tumorigenesis. We present
an enhanced, practical framework for mutational signature analyses. Applying these …

The current increase in number and diversity of targeted anticancer agents poses
challenges to the logistics and timeliness of molecular diagnostics (MolDx), resulting in …

Clinical archives of patient material near-exclusively consist of formalin-fixed and paraffin-
embedded (FFPE) blocks. The ability to precisely characterise mutational signatures from …

Different mutational processes leave characteristic patterns of somatic mutations in the
genome that can be identified as mutational signatures. Determining the contributions of …

The distinction between undifferentiated melanoma (UM) or dedifferentiated melanoma
(DM) from undifferentiated or unclassifiable sarcoma can be difficult and requires the careful …

Background Colorectal cancer (CRC) represents a major cause of cancer deaths worldwide.
Although significant progress has been made by molecular and immune therapeutic …