After conducting WGS on 100 patients with pancreatic ductal adenocarcinoma we defined biomarkers of therapeutic responsiveness for platinum-based chemotherapy and for therapeutics that target similar molecular mechanisms such as PARP inhibitors that are currently being tested in clinical trials.
This paper evaluated somatic mutation calling pipelines using a common set of WGS reads in chronic lymphocytic leukaemia (CLL) and medulloblastoma (MB). The tools which genomiQa uses rated highly.
2016 The American Society of Human Genetics, Li: Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. DOI: /10.1016/j.ajhg.2016.03.001
We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterise their pathogenesis.
The whole-genome mutation landscape of melanoma reveals diverse carcinogenic processes, some unrelated to sun exposure, and extends potential involvement of the non-coding genome in its pathogenesis.
Rapid genetic analysis of lung biopsy materials shows great promise as a means to identify mutations in cell signalling pathways that can be targeted by drugs approved by the U.S. Food and Drug Administration (FDA), perhaps after their repurposing. This ability to reveal novel therapeutic options by analysis of formalin-fixed paraffinembedded (FFPE) cell block material is well matched to biopsy samples, where there can be abundant material in patients with either localized or metastatic lung cancer.
2017 American Journal of Respiratory and Critical Care Medicine, Feilding: Next-Generation Sequencing of Endobronchial Ultrasound Transbronchial Needle Aspiration Specimens in Lung Cancer. DOI: 10.1164/rccm.201611-2210LE