# HG changeset patch # User jjohnson # Date 1449687806 18000 # Node ID baf6602903e19fbf568379750dd3cce37d6a3fd2 # Parent 1739678def32a1012b546f9a03d77c5fc98a68d6 Uploaded diff -r 1739678def32 -r baf6602903e1 snpEff_macros.xml --- a/snpEff_macros.xml Thu Oct 23 06:06:25 2014 -0500 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,32 +0,0 @@ - - - - snpEff - - - - - - - - - - -For details about this tool, please go to: - http://snpeff.sourceforge.net/SnpEff_manual.html - - - ------ - -**Citation** - -For the underlying tool, please cite the following two publications: - -SnpEff citation: -"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.", Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. Fly (Austin). 2012 Apr-Jun;6(2):80-92. PMID: 22728672 [PubMed - in process] - -SnpSift citation: -"Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift", Cingolani, P., et. al., Frontiers in Genetics, 3, 2012. - - - diff -r 1739678def32 -r baf6602903e1 snpSift_annotate.xml --- a/snpSift_annotate.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_annotate.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,13 +1,15 @@ - + SNPs from dbSnp + + snpSift_macros.xml + - - snpEff_macros.xml - - + + + $output +]]> @@ -37,7 +40,6 @@ - @@ -54,7 +56,7 @@ - + diff -r 1739678def32 -r baf6602903e1 snpSift_caseControl.xml --- a/snpSift_caseControl.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_caseControl.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,13 +1,15 @@ - + Count samples are in 'case' and 'control' groups. + + snpSift_macros.xml + - - snpEff_macros.xml - - + + + $output +]]> @@ -45,7 +48,6 @@ - @@ -84,7 +86,7 @@ - + diff -r 1739678def32 -r baf6602903e1 snpSift_extractFields.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snpSift_extractFields.xml Wed Dec 09 14:03:26 2015 -0500 @@ -0,0 +1,221 @@ + + + from a VCF file inot a tabular file + + snpSift_macros.xml + + + + + $output +]]> + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff -r 1739678def32 -r baf6602903e1 snpSift_filter.xml --- a/snpSift_filter.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_filter.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,11 +1,13 @@ - + Filter variants using arbitrary expressions + + snpSift_macros.xml + - - snpEff_macros.xml - - + + + $output +]]> @@ -57,7 +60,6 @@ - @@ -85,7 +87,7 @@ - + @@ -111,11 +113,11 @@ - + 30) | (exists INDEL) | ( countHet() > 2 )". The actual expressions can be quite complex, so it allows for a lot of flexibility. +You can filter a VCF file using arbitrary expressions, for instance "(QUAL > 30) | (exists INDEL) | ( countHet() > 2 )". The actual expressions can be quite complex, so it allows for a lot of flexibility. Some examples: @@ -123,7 +125,7 @@ :: - ( CHROM = 'chr1' ) & ( POS > 1000000 ) & ( POS < 2000000 ) + ( CHROM = 'chr1' ) & ( POS > 1000000 ) & ( POS < 2000000 ) - *Filter value is either 'PASS' or it is missing*: @@ -131,11 +133,13 @@ (FILTER = 'PASS') | ( na FILTER ) - - *I want to filter lines with an EFF of 'frameshift_variant' ( for vcf files using Sequence Ontology terms )*: + - *I want to filter lines with an ANN annotation EFFECT of 'frameshift_variant' ( for vcf files using Sequence Ontology terms )*: :: - ( EFF[*].EFFECT = 'frameshift_variant' ) + ( ANN[*].EFFECT has 'frameshift_variant' ) + + **Important** According to the specification, there can be more than one EFFECT separated by & (e.g. 'missense_variant&splice_region_variant', thus using has operator is better than using equality operator (=). For instance 'missense_variant&splice_region_variant' = 'missense_variant' is false, whereas 'missense_variant&splice_region_variant' has 'missense_variant' is true. - *I want to filter lines with an EFF of 'FRAME_SHIFT' ( for vcf files using Classic Effect names )*: @@ -147,31 +151,31 @@ :: - ( QUAL > 30 ) + ( QUAL > 30 ) - *...but we also want InDels that have quality 20 or more*: :: - (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) + (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) - *...or any homozygous variant present in more than 3 samples*: :: - (countHom() > 3) | (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) + (countHom() > 3) | (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) - *...or any heterozygous sample with coverage 25 or more*: :: - ((countHet() > 0) & (DP >= 25)) | (countHom() > 3) | (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) + ((countHet() > 0) & (DP >= 25)) | (countHom() > 3) | (( exists INDEL ) & (QUAL >= 20)) | (QUAL >= 30 ) - *I want to keep samples where the genotype for the first sample is homozygous variant and the genotype for the second sample is reference*: :: - (isHom( GEN[0] ) & isVariant( GEN[0] ) & isRef( GEN[1] )) + (isHom( GEN[0] ) & isVariant( GEN[0] ) & isRef( GEN[1] )) **For information regarding HGVS and Sequence Ontology terms versus classic names**: @@ -185,5 +189,6 @@ @CITATION_SECTION@ +]]> diff -r 1739678def32 -r baf6602903e1 snpSift_int.xml --- a/snpSift_int.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_int.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,14 +1,17 @@ - + Filter variants using intervals + + snpSift_macros.xml + - - snpEff_macros.xml - - + + + $output +]]> @@ -19,7 +22,6 @@ - @@ -44,14 +46,15 @@ - + diff -r 1739678def32 -r baf6602903e1 snpSift_macros.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snpSift_macros.xml Wed Dec 09 14:03:26 2015 -0500 @@ -0,0 +1,39 @@ + + + + snpEff + + + + + + + + + + java -jar $SNPEFF_JAR_PATH/SnpEff.jar -version + + 4.1 + + +For details about this tool, please go to: + http://snpeff.sourceforge.net/SnpEff_manual.html + + + ------ + +**Citation** + +For the underlying tool, please cite the following two publications: + +SnpSift citation: +"Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift", Cingolani, P., et. al., Frontiers in Genetics, 3:35, 2012. + + + + + 10.3389/fgene.2012.00035 + + + + diff -r 1739678def32 -r baf6602903e1 snpSift_rmInfo.xml --- a/snpSift_rmInfo.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_rmInfo.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,11 +1,14 @@ - + remove INFO field annotations - - snpEff_macros.xml + snpSift_macros.xml - + + + + $output +]]> @@ -17,7 +20,6 @@ - @@ -25,8 +27,8 @@ - - + + @@ -34,23 +36,24 @@ - - + + - + diff -r 1739678def32 -r baf6602903e1 snpSift_vartype.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/snpSift_vartype.xml Wed Dec 09 14:03:26 2015 -0500 @@ -0,0 +1,43 @@ + + Annotate with variant type + + snpSift_macros.xml + + + + + $log > $output +]]> + + + + + + + + + + + + + + diff -r 1739678def32 -r baf6602903e1 snpSift_vcfCheck.xml --- a/snpSift_vcfCheck.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/snpSift_vcfCheck.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,11 +1,14 @@ - + basic checks for Vcf specification compliance - - snpEff_macros.xml + snpSift_macros.xml - + + + + $output +]]> @@ -13,7 +16,6 @@ - @@ -24,7 +26,7 @@ - + diff -r 1739678def32 -r baf6602903e1 tool_dependencies.xml --- a/tool_dependencies.xml Thu Oct 23 06:06:25 2014 -0500 +++ b/tool_dependencies.xml Wed Dec 09 14:03:26 2015 -0500 @@ -1,7 +1,6 @@ - - + + -