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deletion event is wrongly assigned as duplication #193

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fsnibs10 opened this issue Sep 6, 2023 · 3 comments
Open

deletion event is wrongly assigned as duplication #193

fsnibs10 opened this issue Sep 6, 2023 · 3 comments

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@fsnibs10
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fsnibs10 commented Sep 6, 2023

Hi authors,

I can run cnvpytor successfully for one strain, but there is an unexpected result for I: 24001-25000.

deletion I:23001-24000 1000 0.0000 8.787960e-05 3.130581e-47 1.000000e+00 1.000000e+00 -1.0000 0.0000 23100
duplication I:24001-25000 1000 0.0024 1.829800e-04 5.074086e-46 1.000000e+00 1.000000e+00 1.0000 0.0000 24100
deletion I:28001-31400 3400 0.2016 4.722641e-04 3.077144e-12 1.816500e-01 7.963554e-43 0.7610 0.0294 28100

After observing IGV mapping, there should be a deletion event here. I don''t know why cnvpytor reports "duplication".

image

@suvakov
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suvakov commented Sep 6, 2023

Strange. Can you share .pytor file with me? My email is suvakov at gmail. Thanks

@fsnibs10
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Hi suvakov,

I sended you an email and attached the pytor files. Thanks for your help!

@xiucz
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xiucz commented Oct 12, 2023

Hi, @suvakov
I am facing the same issue as well. Can you please take a look at it? Thank you very much!

chr4	141300001	CNVpytor_dup43	.	<DUP>	.	PASS	END=141700000;IMPRECISE;SVLEN=400000;SVTYPE=DUP;pytorRD=0.014548899371722972;pytorP1=0.0028498760122910856;pytorP2=43163869.60494417;pytorP3=0.0028498760122910856;pytorP4=43163869.60494417;pytorQ0=0.0;pytorPN=0.0;pytorDG=49344400.0;pytorCL=rd_mean_shift	GT:CN	0/1:2
chr16	87340001	CNVpytor_dup330	.	<DUP>	.	PASS	END=87530000;IMPRECISE;SVLEN=190000;SVTYPE=DUP;pytorRD=0.003495592688214326;pytorP1=0.0;pytorP2=13.1378512006949;pytorP3=0.0;pytorP4=13.1378512006949;pytorQ0=0.0;pytorPN=0.0;pytorDG=859500.0;pytorCL=rd_mean_shift	GT:CN	0/1:2
chr17	29330001	CNVpytor_dup336	.	<DUP>	.	PASS	END=29680000;IMPRECISE;SVLEN=350000;SVTYPE=DUP;pytorRD=0.0018806006708567012;pytorP1=0.0;pytorP2=1.2683364206343739e-06;pytorP3=0.0;pytorP4=1.2683364206343739e-06;pytorQ0=0.0;pytorPN=0.0;pytorDG=4067100.0;pytorCL=rd_mean_shift	GT:CN	0/1:2
chr17	33040001	CNVpytor_dup339	.	<DUP>	.	PASS	END=33150000;IMPRECISE;SVLEN=110000;SVTYPE=DUP;pytorRD=0.005576928461336835;pytorP1=0.0;pytorP2=43244.56668226278;pytorP3=0.0;pytorP4=43244.56668226278;pytorQ0=0.0;pytorPN=0.0;pytorDG=1526000.0;pytorCL=rd_mean_shift	GT:CN	0/1:2

Best,
xiucz

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