Illumina Corporation

Severine Catreux

Michael D Ruehle

Rami Mehio

Amnon Ptashek

Varun Jain

Johann Felix Wilhelm Schlesinger

Viraj Deshpande

Sean Truong

John Cooper Roddey

Jacobus De Beer

Arun Visvanath

Methods, systems, and apparatuses, including computer programs for identifying a gene fusion in a biological sample are disclosed. The method can include actions of obtaining first data that represents a plurality of aligned reads, identifying a plurality of fusion candidates included within the obtained first data, filtering the plurality of fusion candidates to determine a filtered set of fusion candidates, for each particular fusion candidate of the filtered set of fusion candidates: generating, by one or more computers, input data for input to a machine learning model that includes extracted feature data that to represents the particular fusion candidate, providing the generated input data as an input to the machine learning model that has been trained to generate output data representing a likelihood that a fusion candidate is a valid gene fusion, and determining whether the particular fusion candidate corresponds to a valid gone fusion based on the output data.

Rapid detection of gene fusions

Growing community of inventors

San Diego, CA, United States of America

Severine Catreux