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No results from Delly 1.2.8 VCF #24

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jomoxi opened this issue Jan 8, 2025 · 0 comments
Open

No results from Delly 1.2.8 VCF #24

jomoxi opened this issue Jan 8, 2025 · 0 comments

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@jomoxi
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jomoxi commented Jan 8, 2025

Dear,

I'm wondering why I get no results when using a vcf obtained from DELLY 1.2.8:

--------------------------------
Overall Stats:
Overall EventPrecision: NaN
Overall EventRecall: 0.000%
Overall EventFscore: NaN
--------------------------------
QuerySample	TruthSample	QueryTotal	QueryTp	QueryFp	Precision	TruthTotal	TruthTp	TruthFn	Recall	Fscore	BaseQueryTotal	BaseQueryTp	BaseQueryFp	BasePrecision	BaseTruthTotal	BaseTruthTp	BaseTruthFn	BaseRecall	BaseFscore

HCC1395BL	HCC1395	0	0	0	NaN	1283	0	1283	0.000%	NaN	0	0	0	NaN	9085750	0	9085750	0.000%	NaN

Clearly, it doesn't detect any SV coming from DELLY vcf. Performing a basic intersectBed, there're almost 100% coincidencies, for example:

DELLY (this is in somatic mode, control and tumor samples in format):

chr22	40889941	DUP00258531	C	<DUP>	2340	PASS	PRECISE;SVTYPE=DUP;SVMETHOD=EMBL.DELLYv1.2.8;END=40893271;PE=26;MAPQ=60;CT=5to3;CIPOS=-3,3;CIEND=-3,3;SRMAPQ=60;INSLEN=0;HOMLEN=2;SR=13;SRQ=1;CONSENSUS=CATAATATAATTAATATGCAAAACAGGTTGCTTTCCCAACACAGATCCTTTTTAATAGATACATCTGGCCGGGCGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCTGTACAGTCCTTTGGCCTCCTTGATCCACAGTTTTCTGCACTTCATGGTATATATCTGCTGAGTTATTAAAAATAATAATCTATCATTAATCAAGTCTAAATATT;CE=1.94155;CONSBP=107;RDRATIO=1.25412;SOMATIC	GT:GL:GQ:FT:RCL:RC:RCR:RDCN:DR:DV:RR:RV	0/0:0,-12.0103,-114.269:120:PASS:286:591:303:2:57:0:40:0	0/1:-10.7214,0,-318.662:107:PASS:901:2177:829:3:159:27:124:18

TRUTH SET

chr22	40889940	chr22_40889940_chr22_40893272_-+	N	<DUP>	.	PASS	CHR2=chr22;SVTYPE=DUP;END=40893272;SVLEN=3332;REPLICATE=34;PACBIO=0;NANOPORE=1	GT	0/1	3331

Running witty.er with the same samples with MANTA and DYSGU performs perfectly well
All I can detect is that DELLY doesn't output SVLEN

Many thanks
Jordi

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