megSAP
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Implement MEI detection
Examples:
- DX208004_01 chr13:32,911,530-32,911,900
- DX195929_01 chr2:25498395
- DX194025_01 chr13:48941612
- DNA2309843_02 chr7:5995692 (SVA insertion in PMS2)
Tools:
- MELT (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8934628/)
Todo:
- Check for other tools (MELT is slow and sometimes hangs forever)
- Check if restriction to certain genes is possible and faster (OMIM genes or all genes)
- Check if giving correcte insert size and read lengh improves the output