Clinical Papers

Whole Genome Sequencing in Pancreatic Cancer

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.

2015 Nature, Waddell: Whole genomes redefine the mutational landscape of pancreatic cancer DOI: 10.1038/nature14169

Benchmarking genomiQa’s technology

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.

2015 Nature Communications, Alioto: A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.  DOI: 10.1038/ncomms10001

Whole Genome Sequencing Analysis Key to Finding Risk Factors

Non-coding regulatory variants are associated with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)” instead of “Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is caused by point mutations that families with mutations affecting the promoter 1B are at risk of GAPPS, regardless of whether or not colorectal polyps are present.

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

Whole Genome Sequencing Improves Understanding of Neuroendocrine Tumours

We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterise their pathogenesis.

2017 Nature, Scarpa: Whole-genome landscape of pancreatic neuroendocrine tumours doi: 10.1038/nature21063

Whole Genome Sequencing Improves Understanding of Melanoma

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.

2017 Nature, Hayward: Whole-genome landscapes of major melanoma subtypes. doi:10.1038/nature22071

Next Generation Sequencing Points To Novel Therapeutics Options in Lung Cancer

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