Inivata Ltd.

Karen Howarth

Samuel Woodhouse

Tim Forshew

Vincent Plagnol

Stefanie Viola Lensing

Matthew Edward Smith

Michael Epstein

The present disclosure relates to methods for detecting and targeting genomic rearrangements, in particular gene fusion events, by targeting a DNA molecule of interest with a set or pool of primers, wherein the forward primers and reverse primers produce a PCR amplification product when a genomic rearrangement is present. The present disclosure also relates to methods of bioinformatic analysis to determine whether or not the detection of an amplification product from the selective PCR is actually indicative of the presence of a gene fusion. The present disclosure also related to related methods of diagnosis and treatment of diseases and conditions associated with such genomic rearrangements, in particular cancers, such as lung cancer.

Computational method for detecting fusion events

Method for detecting a genomic rearrangement involving the ALK gene in cell-free DNA

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Cambridge, United Kingdom

Karen Howarth