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cli/src/main/scala/org/bdgenomics/cannoli/cli/Vep.scala
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/** | ||
* Licensed to Big Data Genomics (BDG) under one | ||
* or more contributor license agreements. See the NOTICE file | ||
* distributed with this work for additional information | ||
* regarding copyright ownership. The BDG licenses this file | ||
* to you under the Apache License, Version 2.0 (the | ||
* "License"); you may not use this file except in compliance | ||
* with the License. You may obtain a copy of the License at | ||
* | ||
* http://www.apache.org/licenses/LICENSE-2.0 | ||
* | ||
* Unless required by applicable law or agreed to in writing, software | ||
* distributed under the License is distributed on an "AS IS" BASIS, | ||
* WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. | ||
* See the License for the specific language governing permissions and | ||
* limitations under the License. | ||
*/ | ||
package org.bdgenomics.cannoli.cli | ||
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import htsjdk.samtools.ValidationStringency | ||
import org.apache.spark.SparkContext | ||
import org.bdgenomics.adam.models.VariantContext | ||
import org.bdgenomics.adam.rdd.ADAMContext._ | ||
import org.bdgenomics.adam.rdd.ADAMSaveAnyArgs | ||
import org.bdgenomics.adam.rdd.variant.{ | ||
VariantContextRDD, | ||
VCFInFormatter, | ||
VCFOutFormatter | ||
} | ||
import org.bdgenomics.adam.sql.{ VariantContext => VariantContextProduct } | ||
import org.bdgenomics.cannoli.builder.CommandBuilders | ||
import org.bdgenomics.utils.cli._ | ||
import org.bdgenomics.utils.misc.Logging | ||
import org.kohsuke.args4j.{ Argument, Option => Args4jOption } | ||
import scala.collection.JavaConversions._ | ||
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/** | ||
* Vep function arguments. | ||
*/ | ||
class VepFnArgs extends Args4jBase { | ||
@Args4jOption(required = false, name = "-executable", usage = "Path to the Ensembl VEP executable. Defaults to vep.") | ||
var executable: String = "vep" | ||
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@Args4jOption(required = false, name = "-image", usage = "Container image to use. Defaults to quay.io/biocontainers/ensembl-vep:91.3--htslib1.7_1.") | ||
var image: String = "quay.io/biocontainers/ensembl-vep:91.3--htslib1.7_1" | ||
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@Args4jOption(required = false, name = "-sudo", usage = "Run via sudo.") | ||
var sudo: Boolean = false | ||
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@Args4jOption(required = false, name = "-add_files", usage = "If true, use the SparkFiles mechanism to distribute files to executors.") | ||
var addFiles: Boolean = false | ||
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@Args4jOption(required = false, name = "-use_docker", usage = "If true, uses Docker to launch Ensembl VEP.") | ||
var useDocker: Boolean = false | ||
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@Args4jOption(required = false, name = "-use_singularity", usage = "If true, uses Singularity to launch Ensembl VEP.") | ||
var useSingularity: Boolean = false | ||
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@Args4jOption(required = false, name = "-species", usage = "Species, this can be the latin name e.g. \"homo_sapiens\" or any Ensembl alias e.g. \"mouse\".") | ||
var species: String = null | ||
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@Args4jOption(required = false, name = "-assembly", usage = "Assembly version to use if more than one are available.") | ||
var assembly: String = null | ||
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@Args4jOption(required = true, name = "-cache", usage = "Ensembl VEP cache directory to use.") | ||
var cachePath: String = null | ||
} | ||
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/** | ||
* Vep wrapper as a function VariantContextRDD → VariantContextRDD, | ||
* for use in cannoli-shell or notebooks. | ||
* | ||
* @param args Vep function arguments. | ||
* @param stringency Validation stringency. Defaults to ValidationStringency.LENIENT. | ||
* @param sc Spark context. | ||
*/ | ||
class VepFn( | ||
val args: VepFnArgs, | ||
val stringency: ValidationStringency = ValidationStringency.LENIENT, | ||
sc: SparkContext) extends CannoliFn[VariantContextRDD, VariantContextRDD](sc) with Logging { | ||
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override def apply(variantContexts: VariantContextRDD): VariantContextRDD = { | ||
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var builder = CommandBuilders.create(args.useDocker, args.useSingularity) | ||
.setExecutable(args.executable) | ||
.add("--format") | ||
.add("vcf") | ||
.add("--output_file") | ||
.add("STDOUT") | ||
.add("--vcf_info_field") | ||
.add("ANN") | ||
.add("--terms") | ||
.add("so") | ||
.add("--no_stats") | ||
.add("--offline") | ||
.add("--dir_cache") | ||
.add(if (args.addFiles) "$0" else absolute(args.cachePath)) | ||
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Option(args.species).foreach(builder.add("--species").add(_)) | ||
Option(args.assembly).foreach(builder.add("--assembly").add(_)) | ||
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if (args.addFiles) { | ||
builder.addFile(args.cachePath) | ||
} | ||
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if (args.useDocker || args.useSingularity) { | ||
builder | ||
.setImage(args.image) | ||
.setSudo(args.sudo) | ||
.addMount(if (args.addFiles) "$0" else absolute(args.cachePath)) | ||
} | ||
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log.info("Piping {} to vep with command: {} files: {}", | ||
variantContexts, builder.build(), builder.getFiles()) | ||
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implicit val tFormatter = VCFInFormatter | ||
implicit val uFormatter = new VCFOutFormatter(sc.hadoopConfiguration, stringency) | ||
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variantContexts.pipe[VariantContext, VariantContextProduct, VariantContextRDD, VCFInFormatter]( | ||
cmd = builder.build(), | ||
files = builder.getFiles() | ||
) | ||
} | ||
} | ||
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object Vep extends BDGCommandCompanion { | ||
val commandName = "vep" | ||
val commandDescription = "ADAM Pipe API wrapper for Ensembl VEP." | ||
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def apply(cmdLine: Array[String]) = { | ||
new Vep(Args4j[VepArgs](cmdLine)) | ||
} | ||
} | ||
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/** | ||
* Vep command line arguments. | ||
*/ | ||
class VepArgs extends VepFnArgs with ADAMSaveAnyArgs with ParquetArgs { | ||
@Argument(required = true, metaVar = "INPUT", usage = "Location to pipe from, in VCF format.", index = 0) | ||
var inputPath: String = null | ||
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@Argument(required = true, metaVar = "OUTPUT", usage = "Location to pipe to, in VCF format.", index = 1) | ||
var outputPath: String = null | ||
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@Args4jOption(required = false, name = "-single", usage = "Saves OUTPUT as single file.") | ||
var asSingleFile: Boolean = false | ||
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@Args4jOption(required = false, name = "-defer_merging", usage = "Defers merging single file output.") | ||
var deferMerging: Boolean = false | ||
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@Args4jOption(required = false, name = "-disable_fast_concat", usage = "Disables the parallel file concatenation engine.") | ||
var disableFastConcat: Boolean = false | ||
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@Args4jOption(required = false, name = "-stringency", usage = "Stringency level for various checks; can be SILENT, LENIENT, or STRICT. Defaults to STRICT.") | ||
var stringency: String = "STRICT" | ||
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// must be defined due to ADAMSaveAnyArgs, but unused here | ||
var sortFastqOutput: Boolean = false | ||
} | ||
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/** | ||
* Vep command line wrapper. | ||
*/ | ||
class Vep(protected val args: VepArgs) extends BDGSparkCommand[VepArgs] with Logging { | ||
val companion = Vep | ||
val stringency: ValidationStringency = ValidationStringency.valueOf(args.stringency) | ||
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def run(sc: SparkContext) { | ||
val variantContexts = sc.loadVcf(args.inputPath, stringency = stringency) | ||
val pipedVariantContexts = new VepFn(args, stringency, sc).apply(variantContexts) | ||
pipedVariantContexts.saveAsVcf(args, stringency) | ||
} | ||
} |