Method for identifying RNA isoforms in transcriptome using Nanopore RNA reads

摘要

The present invention provide a method for identifying different isoform using long reads of RNA sequencing. The method includes assigning sequence tracks to a given gene locus based on long-read mapping against a reference genome wherein existing isoforms are also included as a sequence track, excluding long-read mappings that show few overlaps with existing exon or are in antisense to the given gene locus, clustering the sequence tracks based on a distance score Score 1, merging the sequence tracks with a cut-off based on the distance scores Score 1 between the sequence tracks, merging the sequence tracks if the distance score Score 1 is lower than 5%, clustering the retained sequence tracks based on a mutual distance score Score 2, merging the sequence track with a shorter length in the summed exons and correcting the resulting sequence tracks for intron/exon junctions to result in different isoforms.