Methylation biomarker generation and analysis

Abstract

Disclosed are methods to generate biomarkers that can be used for detection of phenotypes in patients. In an example, a method includes obtaining, from a cohort of subjects, a first plurality of samples from healthy subjects and a second plurality of samples from subjects with a phenotype, and generating sequencing data for the samples. The sequencing data may be used to generate a file having a file format (e.g., a.cpg file), and preliminary segmentation may be performed. Biomarker candidates may be generated by applying a model, and the biomarker candidates scored and / or prioritized to obtain biomarkers for a phenotype. The biomarkers may subsequently be used in a panel to detect the phenotype in a subject.