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simoncchu avatar simoncchu commented on July 30, 2024

I am not sure what's the depth of the file. If it is a sample of high depth, I would suggest trying with a larger memory.

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vaksmaz avatar vaksmaz commented on July 30, 2024

An increase in memory worked. It is using lots of ram, is that OK. Also, can you give a bit of information on the Long_Read output (example, what does this mean chr41584154715847572L1HS0R511~116 (see below) ). Most things are self evident but some are a bit hard to interpret. Which column is for gene annotation. etc...

Also, does long-read support somatic analysis?

6	66703922	LINE1	internal_inversion	4242:5324:+	5328:6070:-	CTATATCTTCTGGTAGAAACCTCAAGGCAAAATCAATTAGATTTCCAACT	chr4~15841547~15847572~L1HS~0R~51~1~116	None	TTTTTGGGGTAAGACCAATTTTTTATTTTCCCCGTCTTTGTCTAGGTTTCTACTATTCTATTTTCTCCATGGAACATATCTTTGAACAGCTTAGACTGGTCAGATATCTGCAAGATTGCTTTTTTTTTTTTTTTTTTCTTTGAGAGTTGTTTTTTATTTATTTTTTTTTTTTTTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCCCCCCCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCATCATTGTTGGACATTTGGGTTGGTTCCAAGCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCAGTGTCTTTATAGAAATGTTTATATCATTTGGGAAAAATTTCCCCAAAAGGGATGGCTGGGGCAAAAAGGGAAATTTTTAATTTAATCCCCGAGGAATCGCCACACTGACTTCCACAATGGTTGGAAATAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCCCATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGAACAAATTATGGGGGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCCAAAGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTACAAACCTGGAAAAAAAAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGTCATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATACTATATCTTCTGGTAGAAACCTCAAGGCAAAATCAATTAGATTTCCAACT	GCAATCTTGCAGATATCTGACCAGTCTAAGCTGTTCAAAGATATGTTCCATGGAGAAAATAGAATAGTAGAAACCTAGACAAAGACGGGGAAAATAAAAAATTGGTCTTACCCCAA	None	clip_seq_with_polyA```

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simoncchu avatar simoncchu commented on July 30, 2024

I have some notes here: https://github.com/parklab/xTea_paper/tree/main/run_tools/xTea/HG002 for the columns.

Long-read module doesn't have a somatic mode, which means it outputs combined germline and potential somatic. Also, it used a local assembly step, thus will miss the low VAF ones if the assembly step failed because of the low depth.

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vaksmaz avatar vaksmaz commented on July 30, 2024

And how do I interpret this chr4~15841547~15847572~L1HS~0R~51~1~116 in the example above?

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simoncchu avatar simoncchu commented on July 30, 2024

It indicates this insertion contains a transduction region from a reference L1HS copy chr4:15841547-15847572, and the length of the transduction sequence is 116bp.

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vaksmaz avatar vaksmaz commented on July 30, 2024

Thank you very much for all the help.

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