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Annotates and filters variations with SnpEff.

Parameters in GUI

ParameterDescriptionDefault value
Output directorySelect an output directory. Custom - specify the output directory in the 'Custom directory' parameter. Workflow - internal workflow directory. Input file - the directory of the input file.Input file
Input formatSelect the input format of variations. VCF
Output formatSelect the format of annotated output files. VCF
GenomeSelect the target genome. Genome data will be downloaded if it is not found.Homo sapiens
Upstream/downstream lengthUpstream and downstream interval size. Eliminate any upstream and downstream effect by using 0 length.No upstream/downstream interval (0 bases)
Cannonical transcriptsUse only cannonical transcripts.False
HGVS nomenclatureAnnotate using HGVS nomenclature.False
Annotate loss of functionAnnotate Loss of function (LOF) and Nonsense mediated decay (NMD).False
Annotate TFBSs motifsAnnotate transcription factor binding site motifs (only available for latest GRCh37).False

Parameters in Workflow File

Type: seff

ParameterParameter in the GUIType
out-modeOutput directory

boolean

inp-formatInput formatboolean
out-format
Output formatboolean
genome
Genomenumeric
updown-lengthUpstream/downstream lengthnumeric
canonCannonical transcriptsboolean
hgvs
HGVS nomenclaturestring
lofAnnotate loss of functionstring
motifAnnotate TFBSs motifsnumeric

 

const QString SnpEffWorker::BASE_SNPEFF_SUBDIR = "snpeff";
const QString SnpEffWorker::INPUT_PORT = "in-file";
const QString SnpEffWorker::OUTPUT_PORT = "out-file";
const QString SnpEffWorker::OUT_MODE_ID = "out-mode";
const QString SnpEffWorker::CUSTOM_DIR_ID = "custom-dir";

const QString SnpEffWorker::INPUT_FORMAT = "";
const QString SnpEffWorker::OUTPUT_FORMAT = "";
const QString SnpEffWorker::GENOME = "";
const QString SnpEffWorker::UPDOWN_LENGTH = "";

const QString SnpEffWorker::CANON = "";
const QString SnpEffWorker::HGVS = "";
const QString SnpEffWorker::LOF = "";
const QString SnpEffWorker::MOTIF = "";

const QString SnpEffFactory::ACTOR_ID("seff");

Input/Output Ports

The element has 2 input ports:

Name in GUI: Input assembly

Name in Workflow File: in-assembly

Slots:

Slot In GUISlot in Workflow FileType
Dataset namedatasetstring
Source urlurlstring

Name in GUI: Input sequences

Name in Workflow File: in-sequence

Slots:

Slot In GUISlot in Workflow FileType
Source urlurlstring

And 1 output port:

Name in GUI: Output variations

Name in Workflow File: out-variations

Slots:

Slot In GUISlot in Workflow FileType
Variation trackvariation-trackvariation
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