COMPONENT MIXTURE MODEL FOR TISSUE IDENTIFICATION IN DNA SAMPLES

Methods and systems are disclosed for component deconvolution by a mixture model based on methylation information. A mixture model may be trained agnostic of labels or known component contributions. A system generates a methylation signature for each of a plurality of training samples. The methylati...

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Bibliographische Detailangaben
Hauptverfasser: Marcus, Joseph, Melton, Collin, Stern, Aaron, Bredno, Joerg, Venn, Oliver Claude
Format: Patent
Sprache:eng
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Zusammenfassung:Methods and systems are disclosed for component deconvolution by a mixture model based on methylation information. A mixture model may be trained agnostic of labels or known component contributions. A system generates a methylation signature for each of a plurality of training samples. The methylation signature may be based on a count or a percentage of a methylation variant(s) expressed in the methylation sequence reads of a training sample at each genomic region of a plurality of genomic regions. The system may train the mixture model using maximum likelihood estimation to deconvolve the component contributions. The mixture model may comprise component submodels and a deconvolution submodel. The component submodels predict a component likelihood based on the methylation signature. The deconvolution submodel predicts the component contributions based on the component likelihoods.