Rapid Detection of Gene Fusions

Methods, systems, and apparatuses, including computer programs for identifying a gene fusion in a biological sample is 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 obta...

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Bibliographic Details
Main Authors Roddey, John Cooper, Mehio, Rami, Truong, Sean, Deshpande, Viraj, Schlesinger, Johann Felix Wilhelm, Catreux, Severine, Ruehle, Michael
Format Patent
LanguageEnglish
Published 24.06.2021
Subjects
CALCULATING
COMPUTER SYSTEMS BASED ON SPECIFIC COMPUTATIONAL MODELS
COMPUTING
COUNTING
HANDLING RECORD CARRIERS
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
PRESENTATION OF DATA
RECOGNITION OF DATA
RECORD CARRIERS
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Summary:Methods, systems, and apparatuses, including computer programs for identifying a gene fusion in a biological sample is 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 gene fusion based on the output data.
Bibliography:Application Number: US202017112956