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Implement MEI detection

Open marc-sturm opened this issue 3 years ago • 2 comments

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

marc-sturm avatar Oct 28 '20 12:10 marc-sturm