Area of research
Cancer Research · Hematology
Research interest
Research interests include Cancer Genomics and Diagnostics, Genomics and Rare Diseases, Multiple Myeloma Research and Treatments, and Genetic factors in colorectal cancer.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
Best practices for the interpretation and reporting of clinical whole genome sequencing
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
The Origin and Evolution of Mutations in Acute Myeloid Leukemia
Assuring the quality of next-generation sequencing in clinical laboratory practice
Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data