# 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 @@
+
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 @@
-
+
-
+ 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 @@
-
-
+
+
-