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
    • ...