Short story:
We are trying to identify the content of a large insertion localized at a known place in the human genome. Do you know an existing software that is able to start and extend a de-novo assembly from a read mapped to the REF sequence?
Long story:
- My collaborators have sequenced the region of interest using Ion-torrent + mate-pair. As far as I can see, there are a lot of mismatches in the aligned reads.
- My BWA alignment returns a poor depth in the region of interest (~ 2 )
- CGH shows that the insertion is a junction of a head-to-head duplication
moving to an answer for the discussion. I tried to run vevlet with the reads mapped in the ROI and the unmapped reads: no contig of interest was created (= large number of short contigs)