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Revision as of 19:56, 15 June 2014
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=Motivation=
=Introduction=
This wiki page details some standard Indel analyses which hopefully can help the group in understanding the issues and perform the analyses quickly without reinventing the wheel.
This wiki page details some standard Indel analyses for the sequencing workshop in the example indel data set.
=Viewing the BCF file=
The file generated from the indel calling is a binary version [[http://www.1000genomes.org/wiki/analysis/variant-call-format/bcf-binary-vcf-version-2 BCFv2.1]] of the Variant Call Format (VCF). BCFv2.1 is more efficient to process as the data is already stored in computer readable format on the hard disk. It is however not necessarily more compact than VCF4.2 especially when the format fields are rich in details.
==Header==
== Anatomy of all.genotypes.bcf ==
You can access the header by running the command:
You can access the header by running the command:
vt view -H all.genotypes.bcf.
vt view -H all.genotypes.bcf.
The header is as follows:
The header is as follows:
##FILTER=<ID=overlap,Description="Overlapping variant">
##FILTER=<ID=overlap,Description="Overlapping variant">
=== body ===
==Records==
To view the records:
vt view all.genotypes.bcf.
22 36990877 . GGT G . TPASS AC=32;AN=116;AF=0.275862;GC=32,20,6;GN=58;GF=0.551724,0.344828,0.103448;NS=58;
22 36990877 . GGT G . TPASS AC=32;AN=116;AF=0.275862;GC=32,20,6;GN=58;GF=0.551724,0.344828,0.103448;NS=58;
MLEGF=0.494275,0.464129,0.0415952;HWE_LLR=-0.453098;HWE_LPVAL=-1.0755;HWE_DF=1;FIC=-0.0718807;AB=0.6129
MLEGF=0.494275,0.464129,0.0415952;HWE_LLR=-0.453098;HWE_LPVAL=-1.0755;HWE_DF=1;FIC=-0.0718807;AB=0.6129
GT:PL:DP:AD:GQ 0/0:0,9,108:9:3,0,6:10
GT:PL:DP:AD:GQ 0/0:0,9,108:9:3,0,6:10
22 36991203 . TGAG T . TPASS AC=5;AN=124;AF=0.0403226;GC=58,3,1;GN=62;GF=0.935484,0.0483871,0.016129;NS=62;HWEAF=0.0355594;HWEGF=0.930145,0.0685899,0.00126447;MLEAF=0.0353706;MLEGF=0.929259,0.0707412,5.94815e-11;HWE_LLR=-0.0443401;HWE_LPVAL=-0.266754;HWE_DF=1;FIC=-0.0109029;AB=0.562243 GT:PL:DP:AD:GQ 0/0:0,12,155:6:4,0,2:12
22 36991203 . TGAG T . TPASS AC=5;AN=124;AF=0.0403226;GC=58,3,1;GN=62;GF=0.935484,0.0483871,0.016129;NS=62;HWEAF=0.0355594;HWEGF=0.930145,0.0685899,0.00126447;MLEAF=0.0353706;MLEGF=0.929259,0.0707412,5.94815e-11;HWE_LLR=-0.0443401;HWE_LPVAL=-0.266754;HWE_DF=1;FIC=-0.0109029;AB=0.562243
GT:PL:DP:AD:GQ 0/0:0,12,155:6:4,0,2:12
=Tools=
=Tools=
