Previous cfDNA studies have demonstrated that various features could be derived from cfDNA-seq and cfDNA methylation (cfDNAmet) sequencing data for diagnostic measurement. These features include:

  • cfDNAmet-seq

    • methylation level at promoter region

    • methylation level at gene body level

    • ...

  • cfDNA-seq

    • Mutation (requires deep sequencing depth)

    • CNV

    • Nucleosome occupancy footprint (scores: ration/CPM/WPS) (Pipelines by Y Li)

    • Fragment size profile

    • End motif pattern

    • ...

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