Methods and systems for high-depth sequencing of methylated nucleic acid

Abstract

Methods and systems provided herein address current limitations of bisulfite-based methylation sequencing by improving the quality and accuracy of nucleic acid methylation sequencing and uses thereof for detection of disease. Methods that include minimally-destructive conversion methods for methylation sequencing as well as specialized UMI adapters provide for improved quality of sequencing libraries and sequencing information. Greater accuracy and more complete methylation-state information permits higher quality feature generation for use in machine learning models and classifier generation.

Description

[0001] cross reference

[0002] This application claims the benefit of U.S. Provisional Application No. 62 / 855,795, filed May 31, 2019, which is hereby incorporated by reference in its entirety.

[0003] Incorporate by reference

[0004] All publications, patents and patent applications mentioned in this specification including the examples are herein incorporated by reference in their entirety as if each individual publication, patent or patent application were specifically and individually indicated to be incorporated by reference . In case of conflict, the present application, including any definitions herein, will control. Background technique

[0005] Due to the stability of DNA and the role of DNA in normal differentiation and diseases such as cancer, DNA methylation can reflect tumor characteristics and phenotypic state, and thus has high potential for personalized medicine. Aberrant DNA methylation patterns occur early in the pathogenesis of cancer and thus may f...

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