Hi all, I have a variant detected in four samples using samtools-0.1.19 as shown below
In one of the sample it is identified as "het" variant with 1 RefAllele reads and 7 AltAllele reads whereas it is identified as homozygous variant in the other three samples. We did preformed capillary sequencing in the lab and it turned out to be homozygous in all the samples. Would you please let me understand the method behind the algorithm which led to identify the variant as heterozygous? chr30 37342399 . C T 95.3 . DP=5;VDB=4.238324e-02;AF1=1;AC1=2;DP4=0,0,3,2;MQ=60;FQ=-42 GT:PL:GQ 1/1:128,15,0:27 chr30 37342399 . C T 149 . DP=9;VDB=3.473591e-02;AF1=1;AC1=2;DP4=0,0,2,7;MQ=60;FQ=-54 GT:PL:GQ 1/1:182,27,0:51 chr30 37342399 . C T 220 . DP=14;VDB=1.072004e-01;AF1=1;AC1=2;DP4=0,0,6,8;MQ=60;FQ=-69 GT:PL:GQ 1/1:253,42,0:81 chr30 37342399 . C T 102 . DP=8;VDB=1.068485e-01;RPB=8.141118e-01;AF1=0.5263;AC1=1;DP4=0,1,1,6;MQ=60;FQ=-17.1;PV4=1,0.035,1,0.42 GT:PL:GQ 0/1:132,0,10:13 Thanks ------------------------------------------------------------------------------ Download BIRT iHub F-Type - The Free Enterprise-Grade BIRT Server from Actuate! Instantly Supercharge Your Business Reports and Dashboards with Interactivity, Sharing, Native Excel Exports, App Integration & more Get technology previously reserved for billion-dollar corporations, FREE http://pubads.g.doubleclick.net/gampad/clk?id=164703151&iu=/4140/ostg.clktrk _______________________________________________ Samtools-help mailing list Samtools-help@lists.sourceforge.net https://lists.sourceforge.net/lists/listinfo/samtools-help
