METHODS AND SYSTEMS FOR DETECTING TUMOR MUTATIONAL BURDEN

A computer-implemented method may obtain variant calling data for the tumor sample. The method may identify, in the variant calling data and in view of at least one population database, a list of germline variants for the tumor sample along each chromosome. The method may identify, in the variant ca...

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Bibliographic Details
Main Authors Wenger, Yvan, Bieler, Jonathan, Pozzorinni, Christian, Xu, Zhenyu
Format Patent
LanguageEnglish
French
German
Published 05.07.2023
Subjects
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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Summary:A computer-implemented method may obtain variant calling data for the tumor sample. The method may identify, in the variant calling data and in view of at least one population database, a list of germline variants for the tumor sample along each chromosome. The method may identify, in the variant calling data, a list of candidate somatic variants. The method may filter out likely germline variants from the list of candidate somatic variants to retain only likely somatic variants, filtering out the likely germline variants further comprising the steps of estimating a probability of each candidate somatic variant i being a germline variant ("Pgermline(i)"); and determine whether a candidate somatic variant i is germline or somatic, to retain only the likely somatic variants in the list of candidate somatic variants, determining the tumor mutational burden (TMB) value for the tumor sample.
Bibliography:Application Number: EP20220217441