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publicationDate 2022-06-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-4018003-A1
titleOfInvention Systems and methods for predicting and monitoring treatment response from cell-free nucleic acids
abstract Methods and systems for determining a subjects likelihood of responding to a treatment by assessing the subjects cell-free DNA (cfDNA) sample include receiving sequence data gathered from sequencing the cfDNA sample, generating a feature matrix of values that correspond to synonymous and nonsynonymous mutations detected in the sequence data, and predicting, based on analysis of the feature matrix at a TMB prediction model, a tumor mutational burden (TMB) for a tissue of interest at the subject. The predicted TMB is evaluated to determine whether a set of criteria indicating a likely response to treatment is met. The set of criteria can include criterion(s) that are met when the predicted TMB is high, when the predicted TMB corresponds to a predicted tumoral heterogeneity indicative of homogeneous tissue, when the predicted TMB corresponds to a tumor fraction indicative of a positive responder, or any combination thereof.
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