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About CNV association #62

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Jingjiao-ma opened this issue Jan 31, 2018 · 0 comments
Open

About CNV association #62

Jingjiao-ma opened this issue Jan 31, 2018 · 0 comments

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@Jingjiao-ma
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hi

I run plink v1.07 Association mapping with segmental CNV data: regional tests
the EMP1 and EMP2 of every region is 1

my vcf is

#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	CP1600001	CP1600002	CP1600003	CP1600004	CP1600005	CP1600006	CP1600007	CP1600008	CP1600009	CP1600010	CP1600011	CP1600012	CP1600013	CP1600014	CP1600015	CP1600016	CP1600017	CP1600018	CP1600019	CP1600020	CP1600021	CP1600022	CP1600023	CP1600024	CP1600025	CP1600026	CP1600027	CP1600028	CP1600029	CP1600030	CP1600031	CP1600032	CP1600033	CP1600034	CP1600035	CP1600036	CP1600037	CP1600038	CP1600039	CP1600040	CP1600041
1	790997	CNV_1_790997_830957	T	<CN0>,<CN2>	.	PASS	END=830957;GCFRACTION=0.43;GCLENGTH=39961;GLALTFREQ=NA;GLALTSUM=0.000;GLHETSUM=0.000;GLINBREEDINGCOEFF=NA;GLREFFREQ=NA;GLREFSUM=0.000;GSCALLRATE=0.999;GSCLUSTERSEP=9.59;GSCLUSTERSEPWEIGHTEDMEAN=8.03;GSCLUSTERSEPWEIGHTEDMEDIAN=8.14;GSCNALLELES=3;GSCNCATEGORY=MIXED;GSCNDIST=0,3,794,152,18;GSCNMAX=4;GSCNMIN=1;GSCNQUAL=2181.9075;GSDUPLICATEOVERLAP=NA;GSDUPLICATES=NA;GSDUPLICATESCORE=NA;GSELENGTH=26499;GSEXPMEAN=189.3918;GSGMMWEIGHTS=0.0001,0.0031,0.8205,0.1577,0.0186,0.0000;GSM1=1.0647;GSM2=0.3106,1.5530;GSNNONREF=173;GSNONVARSCORE=NA;GSNVARIANT=173;SVTYPE=CNV	GT:CN:CNF:CNL:CNP:CNQ:GL:GP:GQ	0/2:3:2.9985:-1000.00,-110.41,-13.72,-0.00,-7.01,-22.31:-1000.00,-112.12,-13.01,-0.00,-7.94,-59.86:79.4:-14.20,-110.41,-1000.00,-0.00,-13.90,-7.01:-12.47,-113.83,-1000.00,-0.00,-15.91,-8.95:79	0/0:2:2.2905:-1000.00,-46.59,-0.00,-3.71,-19.97,-41.26:-1000.00,-49.01,-0.00,-4.42,-21.62,-79.53:44.2:-0.48,-46.59,-1000.00,-3.71,-0.18,-19.97:-0.00,-51.26,-1000.00,-4.96,-3.44,-23.17:34	0/0:2:2.0602:-1000.00,-31.48,-0.00,-8.33,-26.61,-48.86:-1000.00,-33.90,-0.00,-9.05,-28.26,-87.12:90.5:-0.48,-31.48,-1000.00,-8.33,-0.18,-26.61:-0.00,-36.15,-1000.00,-9.59,-3.44,-29.81:34	0/0:2:2.0828:-1000.00,-34.69,-0.00,-8.34,-27.44,-50.83:-1000.00,-37.12,-0.00,-9.06,-29.08,-89.09:90.6:-0.48,-34.69,-1000.00,-8.34,-0.18,-27.44:-0.00,-39.37,-1000.00,-9.60,-3.44,-30.63:34	0/0:2:2.0486:-1000.00,-32.82,-0.00,-9.11,-28.69,-52.45:-1000.00,-35.24,-0.00,-9.82,-30.33,-90.71:98.2:-0.48,-32.82,-1000.00,-9.11,-0.18,-28.69:-0.00,-37.49,-1000.00,-10.36,-3.44,-31.88:34	0/2:3:2.9220:-1000.00,-106.42,-12.13,-0.00,-8.40,-25.00:-1000.00,-108.13,-11.42,-0.00,-9.32,-62.55:93.2:-12.61,-106.42,-1000.00,-0.00,-12.31,-8.40:-10.88,-109.84,-1000.00,-0.00,-14.32,-10.33:93	0/0:2:2.0621:-1000.00,-32.94,-0.00,-8.65,-27.68,-50.87:-1000.00,-35.36,-0.00,-9.36,-29.33,-89.13:93.6:-0.48,-32.94,-1000.00,-8.65,-0.18,-27.68:-0.00,-37.61,-1000.00,-9.90,-3.44,-30.88:34	0/0:2:1.9514:-1000.00,-25.78,-0.00,-10.57,-30.21,-53.49:-1000.00,-28.20,-0.00,-11.28,-31.86,-91.75:99.0:-0.48,-25.78,-1000.00,-10.57,-0.18,-30.21:-0.00,-30.45,-1000.00,-11.82,-3.44,-33.41:34	0/0:2:2.1869:-1000.00,-36.41,-0.00,-5.42,-21.29,-41.33:-1000.00,-38.83,-0.00,-6.14,-22.93,-79.59:61.4:-0.48,-36.41,-1000.00,-5.42,-0.18,-21.29:-0.00,-41.08,-1000.00,-6.68,-3.44,-24.48:34	0/0:2:2.0285:-1000.00,-30.43,-0.00,-9.17,-28.24,-51.25:-1000.00,-32.85,-0.00,-9.89,-29.88,-89.51:98.9:-0.48,-30.43,-1000.00,-9.17,-0.18,-28.24:-0.00,-35.10,-1000.00,-10.43,-3.44,-31.43:34	0/2:3:2.7910:-1000.00,-88.50,-8.20,-0.00,-9.81,-26.83:-1000.00,-90.21,-7.48,-0.00,-10.74,-64.37:74.8:-8.68,-88.50,-1000.00,-0.00,-8.38,-9.81:-6.94,-91.92,-1000.00,-0.00,-10.38,-11.75:69	0/0:2:1.9336:-1000.00,-24.42,-0.00,-10.74,-30.25,-53.28:-1000.00,-26.84,-0.00,-11.45,-31.90,-91.54:99.0:-0.48,-24.42,-1000.00,-10.74,-0.18,-30.25:-0.00,-29.09,-1000.00,-11.99,-3.44,-33.45:34	0/0:2:1.7895:-1000.00,-18.80,-0.00,-14.79,-37.97,-64.50:-1000.00,-21.23,-0.00,-15.51,-39.62,-102.76:99.0:-0.48,-18.80,-1000.00,-14.79,-0.18,-37.97:-0.00,-23.48,-1000.00,-16.05,-3.44,-41.17:34	2/2:4:3.7541:-1000.00,-220.35,-44.25,-5.02,-0.00,-8.66:-1000.00,-221.13,-42.61,-4.09,-0.00,-45.27:40.9:-44.73,-220.35,-1000.00,-5.02,-44.43,-0.00:-41.06,-221.83,-1000.00,-3.08,-44.50,-0.00:31	0/0:2:2.0219:-1000.00,-29.98,-0.00,-9.29,-28.38,-51.39:-1000.00,-32.41,-0.00,-10.00,-30.02,-89.65:99.0:-0.48,-29.98,-1000.00,-9.29,-0.18,-28.38:-0.00,-34.66,-1000.00,-10.54,-3.44,-31.57:34	0/0:2:1.9482:-1000.00,-25.23,-0.00,-10.48,-29.87,-52.83:-1000.00,-27.65,-0.00,-11.19,-31.52,-91.09:99.0:-0.48,-25.23,-1000.00,-10.48,-0.18,-29.87:-0.00,-29.90,-1000.00,-11.73,-3.44,-33.07:34	0/0:2:2.1870:-1000.00,-38.21,-0.00,-5.68,-22.32,-43.35:-1000.00,-40.64,-0.00,-6.40,-23.97,-81.61:64.0:-0.48,-38.21,-1000.00,-5.68,-0.18,-22.32:-0.00,-42.89,-1000.00,-6.94,-3.44,-25.52:34	0/0:2:1.9498:-1000.00,-26.13,-0.00,-10.77,-30.76,-54.44:-1000.00,-28.55,-0.00,-11.49,-32.41,-92.70:99.0:-0.48,-26.13,-1000.00,-10.77,-0.18,-30.76:-0.00,-30.80,-1000.00,-12.03,-3.44,-33.96:340/0:2:1.7935:-1000.00,-17.12,-0.00,-13.26,-34.10,-57.97:-1000.00,-19.54,-0.00,-13.97,-35.74,-96.23:99.0:-0.48,-17.12,-1000.00,-13.26,-0.18,-34.10:-0.00,-21.79,-1000.00,-14.51,-3.44,-37.29:34	0/0:2:2.0280:-1000.00,-30.71,-0.00,-9.28,-28.55,-51.81:-1000.00,-33.14,-0.00,-10.00,-30.19,-90.07:99.0:-0.48,-30.71,-1000.00,-9.28,-0.18,-28.55:-0.00,-35.39,-1000.00,-10.54,-3.44,-31.74:34	0/0:2:2.0524:-1000.00,-32.91,-0.00,-8.99,-28.45,-52.09:-1000.00,-35.33,-0.00,-9.71,-30.10,-90.35:97.1:-0.48,-32.91,-1000.00,-8.99,-0.18,-28.45:-0.00,-37.58,-1000.00,-10.25,-3.44,-31.65:34	0/2:3:3.0927:-1000.00,-128.70,-17.42,-0.00,-6.04,-21.46:-1000.00,-130.40,-16.70,-0.00,-6.97,-59.01:69.7:-17.90,-128.70,-1000.00,-0.00,-17.60,-6.04:-16.16,-132.11,-1000.00,-0.00,-19.60,-7.98:70	0/0:2:1.9925:-1000.00,-29.43,-0.00,-10.25,-30.41,-54.54:-1000.00,-31.86,-0.00,-10.97,-32.06,-92.80:99.0:-0.48,-29.43,-1000.00,-10.25,-0.18,-30.41:-0.00,-34.11,-1000.00,-11.51,-3.44,-33.61:34	0/0:2:2.1112:-1000.00,-35.29,-0.00,-7.50,-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1	791801	CNV_1_791801_893718	T	<CN0>,<CN2>	.	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1	833820	CNV_1_833820_910074	T	<CN0>,<CN2>	.	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1	833820	CNV_1_833820_921749	T	<CN2>	.	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I convert it to

FID	IID	CHR	BP1	BP2	TYPE	SCORE	SITES
CP1600001	CP1600001	1	790997	830957	3	0	0
CP1600002	CP1600002	1	790997	830957	2	0	0

then I run

plink-1.07-x86_64/plink --cnv-list genomestrip.cnv --cnv-make-map
plink-1.07-x86_64/plink --cnv-list genomestrip.cnv --map plink.cnv.map --fam genomestrip.fam
plink-1.07-x86_64/plink --cnv-list genomestrip.cnv --map plink.cnv.map --fam genomestrip.fam --cnv-intersect glist-hg38.dms  --cnv-test-region --mperm 10000

the result is

$head plink.cnv.regional.summary.mperm
 CHR           REGION         EMP1         EMP2
   1          DDX11L1            1            1
   1           WASH7P            1            1
   1        MIR6859-1            1            1
   1        MIR1302-2            1            1
   1          FAM138A            1            1
   1            OR4F5            1            1
   1        LOC729737            1            1
   1        MIR6859-1            1            1
   1          FAM138D            1            1

Which step did I do wrong?

Best,
Maggie

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