Variant calling in RNAseq data using HaplotypeCaller and VariantFiltration in GATK. The function with default values follows the GATK best practices as seen on 12.09.2016
Version | 1.0 |
---|---|
Bundle | sequencing |
Categories | Analysis |
Authors | Amjad Alkodsi (amjad.alkodsi@helsinki.fi) |
Issue tracker | View/Report issues |
Source files | component.xml function.scala |
Usage | Example with default values |
Name | Type | Mandatory | Description |
---|---|---|---|
reference | FASTA | Mandatory | The reference fasta file. |
in | BAM | Mandatory | Input BAM file. |
Name | Type | Description |
---|---|---|
out | VCF | Filtered Variant calls |
Name | Type | Default | Description |
---|---|---|---|
callEmit | string | "20.0,20.0" | Comma-separated values of stand_call_conf and stand_emit_conf parameters respectively. |
cluster | string | "3" | Minimum number of variants in a defined window to consider them clustered. |
filterNames | string | "FS,QD" | Comma-separated names of filters to be applied. For example use "FS,QD" for two filters. |
filteringOptions | string | "" | Other options to be passed to VariantFiltration. |
filters | string | "FS > 30.0,QD < 2.0" | Comma-separated filters to be applied. The length and order should match the one in filterNames. |
gatkPath | string | "" | Path to GATK directory containing the 'GenomeAnalysisTK.jar'. If empty string is given (default), GATK_HOME environment variable is assumed to point to the GATK directory where GenomeAnalysisTK.jar is located. |
haplotypeOptions | string | "" | Other options to pass to HaplotypeCaller |
memory | string | "4g" | The amount of java-heap memory being allocated to each GATK and Picard thread, given in the format "4g" for 4 gigabytes or "2560m" for 2560 megabytes (2,5g) etc. |
window | string | "35" | Window size in bp for clustered variants filtering. Set to 0 to deactivate. |
Test case | Parameters▼ | IN reference |
IN in |
OUT out |
||
---|---|---|---|---|---|---|
case1 | properties | reference | in | (missing) | ||
memory=2g |