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added another sub-chunker
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reference distance is also done to help reduce denser regions
Also size diff will take into account svtype, also
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@ACEnglish
ACEnglish committed Dec 24, 2023
1 parent 564c6fe commit 9b17523
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4 changes: 2 additions & 2 deletions imgs/coverage.svg
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4 changes: 2 additions & 2 deletions repo_utils/answer_key/collapse/input1_median_collapsed.vcf
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Original file line number Diff line number Diff line change
Expand Up @@ -888,7 +888,7 @@ chr20 419860 . AGTGACCCTGCACCTGGCT A 60 . QNAME=HG002-S9-H2-000001F;QSTART=37411
chr20 420228 . A C 60 . QNAME=HG002-S9-H2-000001F;QSTART=374466;QSTRAND=+ GT:PL:DP 0|1:2,3,6:24,29
chr20 420465 . A AG 60 . QNAME=HG002-S9-H2-000001F;QSTART=374704;QSTRAND=+ GT:PL:DP 0|1:6,10,1:32,35
chr20 420561 . A T 60 . QNAME=HG002-S9-H1-000001F;QSTART=399939;QSTRAND=+ GT:PL:DP 1|1:5,6,7:36,12
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 61 . QNAME=HG002-S9-H2-000001F;QSTART=374905;QSTRAND=+;SVTYPE=INS;SVLEN=227;NumCollapsed=1;NumConsolidated=0;CollapseId=6.0;CollapseStart=420664;CollapseEnd=420665;CollapseSize=226 GT:PL 0/1:.
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 61 . QNAME=HG002-S9-H2-000001F;QSTART=374905;QSTRAND=+;SVTYPE=INS;SVLEN=227;NumCollapsed=1;NumConsolidated=0;CollapseId=4.0;CollapseStart=420664;CollapseEnd=420665;CollapseSize=226 GT:PL 0/1:.
chr20 421409 . G A 60 . QNAME=HG002-S9-H1-000001F;QSTART=401013;QSTRAND=+ GT:PL:DP 1|1:2,3,7:14,41
chr20 421527 . T C 60 . QNAME=HG002-S9-H2-000001F;QSTART=375993;QSTRAND=+ GT:PL:DP 0|1:3,8,4:49,42
chr20 422066 . A G 60 . QNAME=HG002-S9-H1-000001F;QSTART=401670;QSTRAND=+ GT:PL:DP 1|1:3,7,8:9,39
Expand Down Expand Up @@ -1260,7 +1260,7 @@ chr20 639104 . A AT 60 . QNAME=HG002-S9-H1-000001F;QSTART=618555;QSTRAND=+ GT:PL
chr20 640046 . C T 60 . QNAME=HG002-S9-H1-000001F;QSTART=619497;QSTRAND=+ GT:PL:DP 1|0:10,10,9:11,48
chr20 640049 . C T 60 . QNAME=HG002-S9-H1-000001F;QSTART=619500;QSTRAND=+ GT:PL:DP 1|1:2,3,4:13,44
chr20 641878 . C G 60 . QNAME=HG002-S9-H1-000001F;QSTART=621329;QSTRAND=+ GT:PL:DP 1|0:8,1,7:7,13
chr20 641913 . G GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=621365;QSTRAND=+;SVTYPE=INS;SVLEN=66;NumCollapsed=1;NumConsolidated=0;CollapseId=10.0;CollapseStart=642120;CollapseEnd=642121;CollapseSize=66 GT:PL:DP 1/0:7,5,7:34,13
chr20 641913 . G GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=621365;QSTRAND=+;SVTYPE=INS;SVLEN=66;NumCollapsed=1;NumConsolidated=0;CollapseId=6.0;CollapseStart=642120;CollapseEnd=642121;CollapseSize=66 GT:PL:DP 1/0:7,5,7:34,13
chr20 641944 . GGA G 60 . QNAME=HG002-S9-H1-000001F;QSTART=621462;QSTRAND=+ GT:PL:DP 1|0:6,6,6:17,7
chr20 642012 . GGT G 60 . QNAME=HG002-S9-H1-000001F;QSTART=621528;QSTRAND=+ GT:PL:DP 1|0:5,7,1:6,23
chr20 642037 . T TG 60 . QNAME=HG002-S9-H1-000001F;QSTART=621551;QSTRAND=+ GT:PL:DP 1|0:4,10,10:14,47
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4 changes: 2 additions & 2 deletions repo_utils/answer_key/collapse/input1_median_removed.vcf
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Original file line number Diff line number Diff line change
Expand Up @@ -47,5 +47,5 @@
##INFO=<ID=MatchId,Number=1,Type=String,Description="Id to help tie base/comp calls together {chunkid}.{baseid}.{compid}">
##INFO=<ID=Multi,Number=0,Type=Flag,Description="Call is false due to non-multimatching">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA24385
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 60 . QNAME=HG002-S9-H1-000001F;QSTART=400044;QSTRAND=+;SVTYPE=INS;SVLEN=226;PctSeqSimilarity=0.9956;PctSizeSimilarity=0.9956;PctRecOverlap=1;SizeDiff=1;StartDistance=0;EndDistance=0;GTMatch=.;TruScore=99;MatchId=6.0 GT:PL:DP 1/0:4,8,6:32,9
chr20 642330 . G GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=597257;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.9576;PctSizeSimilarity=1;PctRecOverlap=0;SizeDiff=0;StartDistance=-417;EndDistance=-417;GTMatch=.;TruScore=65;MatchId=10.0 GT:PL:DP 0/1:6,1,9:20,25
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 60 . QNAME=HG002-S9-H1-000001F;QSTART=400044;QSTRAND=+;SVTYPE=INS;SVLEN=226;PctSeqSimilarity=0.9956;PctSizeSimilarity=0.9956;PctRecOverlap=1;SizeDiff=1;StartDistance=0;EndDistance=0;GTMatch=.;TruScore=99;MatchId=4.0 GT:PL:DP 1/0:4,8,6:32,9
chr20 642330 . G GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=597257;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.9576;PctSizeSimilarity=1;PctRecOverlap=0;SizeDiff=0;StartDistance=-417;EndDistance=-417;GTMatch=.;TruScore=65;MatchId=6.0 GT:PL:DP 0/1:6,1,9:20,25
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