WeiWei060512 / NUMTs-detection

Detecting NUMTs from WGS
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Question about the results of searchBreakpoint_fromblatoutputs.py #14

Open LiantingFu opened 4 months ago

LiantingFu commented 4 months ago

Thank you for sharing the interesting pipeline for detecting NUMTs!

However, I have some questions about the results of searchBreakpoint_fromblatoutputs.py. After applying the filtering criterion (readsCount >= 3) as described in the paper, I noticed that not all NUMT regions identified by searchNumtCluster_fromDiscordantReads.py exhibit high-confidence left and right breakpoints on both nuclear and mitochondrial genomes (Example 1), and some of the breakpoints given did not seem to constitute a reasonable interval (Example 2, nuclear bp). I wonder whether these regions should be considered genuine NUMTs, or if there exists an alternative approach to detect the breakpoints of these regions? Thank you very much!

Example 1 pointGroup Group chr Tend strand readsCount Tstart nu_Tstart_Bright nu_Tstart_Bright chr21 -1 + 14 20074374 mt_Tstart mtRight chrM -1 - 14 5135

Example 2 pointGroup Group chr Tend strand readsCount Tstart nu_Tend_Bleft nu_Tend_Bleft chr11 50039357 + 8 -1 nu_Tstart_Bright nu_Tstart_Bright chr11 -1 + 10 50039359 mt_Tend mtLeft chrM 16053 - 8 -1 mt_Tstart mtRight chrM -1 - 10 15511