The Chinese University of Hong Kong

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Kwan Chee Chan

Rossa Wai Kwun Chiu

Yuk-Ming Dennis Lo

Peiyong Jiang

Suk Hang Cheng

Wenlei Peng

Systems and methods for using determination of base modification in analyzing nucleic acid molecules and acquiring data for analysis of nucleic acid molecules are described herein. Base modifications may include methylations. Methods to determine base modifications may include using features derived from sequencing. These features may include the pulse width of an optical signal from sequencing bases, the interpulse duration of bases, and the identity of the bases. Machine learning models can be trained to detect the base modifications using these features. The relative modification or methylation levels between haplotypes may indicate a disorder. Modification or methylation statuses may also be used to detect chimeric molecules.

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Hong Kong, China

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