METHOD AND MARKERS FOR IDENTIFICATION AND RELATIVE QUANTIFICATION OF NUCLEIC ACID SEQUENCE, MUTATION, COPY NUMBER, OR METHYLATION CHANGES USING COMBINATIONS OF NUCLEASE, LIGATION, DEAMINATION, DNA REPAIR, AND POLYMERASE REACTIONS WITH CARRYOVER PREVENTION

摘要

The present invention relates to methods for identifying and/or quantifying low abundance, nucleotide base mutations, insertions, deletions, translocations, splice variants, miRNA variants, alternative transcripts, alternative start sites, alternative coding sequences, alternative non-coding sequences, alternative splicings, exon insertions, exon deletions, intron insertions, or other rearrangement at the genome level and/or methylated or hydroxymethylated nucleotide bases, as well as markers to identify early cancer, monitor cancer treatment, and identify early cancer recurrence.