RNA-seqBioinformatics Tools
In recent years, RNA-seq has emerged as a powerful technology in estimation of gene or transcript expression. ‘Union-exon’ and transcript based approaches are widely used in gene quantification.
Figure 2: Minor isoform changes are masked at the gene level. Gene BICD2 (Ensembl ID: ENSG00000185963.9) consists of two very similar isoforms. At the gene level, overall, there is not much difference between sample UHRR_C1 and HBRR_C4, as shown in read coverage profiles. However, the difference is dramatic at the transcript level. For human brain sample HBRR_C4, only the long transcript ENST00000356884.6 is expressed; while in sample UHRR_C1, both isoforms are present. Note in sample UHRR_C1, there are 48 reads that span across the junction site between exons #7 and #8 (colored in indigo), and such reads can only originate from the short transcript ENST00000375512. The stranded RNA-seq dataset were downloaded from Illumina’s Base Space, consisting of 2 UHRR (Universal Human Reference RNA) and 2 HBRR (Human Brain Reference RNA) samples. Only UHRR_C1 and HBRR_C4 are shown in the figure.

