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VariantDataset.scala
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VariantDataset.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.adam.ds.variant
import htsjdk.variant.vcf.{ VCFHeader, VCFHeaderLine }
import org.apache.hadoop.fs.Path
import org.apache.parquet.hadoop.metadata.CompressionCodecName
import org.apache.spark.SparkContext
import org.apache.spark.api.java.function.{ Function => JFunction }
import org.apache.spark.rdd.RDD
import org.apache.spark.sql.Dataset
import org.bdgenomics.adam.converters.DefaultHeaderLines
import org.bdgenomics.adam.models.{
ReferenceRegion,
ReferenceRegionSerializer,
SequenceDictionary,
VariantContext
}
import org.bdgenomics.adam.ds.ADAMContext._
import org.bdgenomics.adam.ds.{
DatasetBoundGenomicDataset,
AvroGenomicDataset,
VCFHeaderUtils,
VCFSupportingGenomicDataset
}
import org.bdgenomics.adam.rich.RichVariant
import org.bdgenomics.adam.serialization.AvroSerializer
import org.bdgenomics.adam.sql.{ Variant => VariantProduct }
import org.bdgenomics.formats.avro.{
Reference,
Sample,
Variant
}
import org.bdgenomics.utils.interval.array.{
IntervalArray,
IntervalArraySerializer
}
import scala.collection.JavaConversions._
import scala.reflect.ClassTag
import scala.reflect.runtime.universe._
private[adam] case class VariantArray(
array: Array[(ReferenceRegion, Variant)],
maxIntervalWidth: Long) extends IntervalArray[ReferenceRegion, Variant] {
def duplicate(): IntervalArray[ReferenceRegion, Variant] = {
copy()
}
protected def replace(arr: Array[(ReferenceRegion, Variant)],
maxWidth: Long): IntervalArray[ReferenceRegion, Variant] = {
VariantArray(arr, maxWidth)
}
}
private[adam] class VariantArraySerializer extends IntervalArraySerializer[ReferenceRegion, Variant, VariantArray] {
protected val kSerializer = new ReferenceRegionSerializer
protected val tSerializer = new AvroSerializer[Variant]
protected def builder(arr: Array[(ReferenceRegion, Variant)],
maxIntervalWidth: Long): VariantArray = {
VariantArray(arr, maxIntervalWidth)
}
}
object VariantDataset extends Serializable {
/**
* Builds a VariantDataset from an RDD.
*
* @param rdd The underlying Variant RDD.
* @param references The references for the genomic dataset.
* @param headerLines The header lines for the genomic dataset.
* @return A new VariantDataset.
*/
def apply(rdd: RDD[Variant],
references: Iterable[Reference],
headerLines: Seq[VCFHeaderLine]): VariantDataset = {
RDDBoundVariantDataset(rdd, SequenceDictionary.fromAvro(references.toSeq), headerLines, None)
}
/**
* Builds a VariantDataset from an RDD.
*
* @param rdd The underlying Variant RDD.
* @param sequences The sequence dictionary for the genomic dataset.
* @param headerLines The header lines for the genomic dataset.
* @return A new VariantDataset.
*/
def apply(rdd: RDD[Variant],
sequences: SequenceDictionary,
headerLines: Seq[VCFHeaderLine] = DefaultHeaderLines.allHeaderLines): VariantDataset = {
RDDBoundVariantDataset(rdd, sequences, headerLines, None)
}
/**
* Builds a VariantDataset from a Dataset.
*
* @param ds The underlying Variant Dataset.
* @return A new VariantDataset.
*/
def apply(ds: Dataset[VariantProduct]): VariantDataset = {
DatasetBoundVariantDataset(ds, SequenceDictionary.empty, DefaultHeaderLines.allHeaderLines)
}
/**
* Builds a VariantDataset from a Dataset.
*
* @param ds The underlying Variant Dataset.
* @param references The references for the genomic dataset.
* @param headerLines The header lines for the genomic dataset.
* @return A new VariantDataset.
*/
def apply(ds: Dataset[VariantProduct],
references: Iterable[Reference],
headerLines: Seq[VCFHeaderLine]): VariantDataset = {
DatasetBoundVariantDataset(ds, SequenceDictionary.fromAvro(references.toSeq), headerLines)
}
/**
* Builds a VariantDataset from a Dataset.
*
* @param ds The underlying Variant Dataset.
* @param sequences The sequence dictionary for the genomic dataset.
* @param headerLines The header lines for the genomic dataset.
* @return A new VariantDataset.
*/
def apply(ds: Dataset[VariantProduct],
sequences: SequenceDictionary,
headerLines: Seq[VCFHeaderLine]): VariantDataset = {
DatasetBoundVariantDataset(ds, sequences, headerLines)
}
}
case class ParquetUnboundVariantDataset private[ds] (
@transient private val sc: SparkContext,
private val parquetFilename: String,
sequences: SequenceDictionary,
@transient headerLines: Seq[VCFHeaderLine]) extends VariantDataset {
lazy val rdd: RDD[Variant] = {
sc.loadParquet(parquetFilename)
}
protected lazy val optPartitionMap = sc.extractPartitionMap(parquetFilename)
lazy val dataset = {
import spark.implicits._
spark.read.parquet(parquetFilename).as[VariantProduct]
}
def replaceSequences(
newSequences: SequenceDictionary): VariantDataset = {
copy(sequences = newSequences)
}
def replaceHeaderLines(newHeaderLines: Seq[VCFHeaderLine]): VariantDataset = {
copy(headerLines = newHeaderLines)
}
}
case class DatasetBoundVariantDataset private[ds] (
dataset: Dataset[VariantProduct],
sequences: SequenceDictionary,
@transient headerLines: Seq[VCFHeaderLine] = DefaultHeaderLines.allHeaderLines,
override val isPartitioned: Boolean = true,
override val optPartitionBinSize: Option[Int] = Some(1000000),
override val optLookbackPartitions: Option[Int] = Some(1)) extends VariantDataset
with DatasetBoundGenomicDataset[Variant, VariantProduct, VariantDataset] {
protected lazy val optPartitionMap = None
lazy val rdd = dataset.rdd.map(_.toAvro)
override def saveAsParquet(filePath: String,
blockSize: Int = 128 * 1024 * 1024,
pageSize: Int = 1 * 1024 * 1024,
compressionCodec: CompressionCodecName = CompressionCodecName.GZIP,
disableDictionaryEncoding: Boolean = false) {
info("Saving directly as Parquet from SQL. Options other than compression codec are ignored.")
dataset.toDF()
.write
.format("parquet")
.option("spark.sql.parquet.compression.codec", compressionCodec.toString.toLowerCase())
.save(filePath)
saveMetadata(filePath)
}
override def transformDataset(
tFn: Dataset[VariantProduct] => Dataset[VariantProduct]): VariantDataset = {
copy(dataset = tFn(dataset))
}
override def transformDataset(
tFn: JFunction[Dataset[VariantProduct], Dataset[VariantProduct]]): VariantDataset = {
copy(dataset = tFn.call(dataset))
}
def replaceSequences(
newSequences: SequenceDictionary): VariantDataset = {
copy(sequences = newSequences)
}
def replaceHeaderLines(newHeaderLines: Seq[VCFHeaderLine]): VariantDataset = {
copy(headerLines = newHeaderLines)
}
override def filterToFiltersPassed(): VariantDataset = {
transformDataset(dataset => dataset.filter(dataset.col("filtersPassed")))
}
override def filterByQuality(minimumQuality: Double): VariantDataset = {
transformDataset(dataset => dataset.filter(!dataset.col("splitFromMultiAllelic") && dataset.col("quality") >= minimumQuality))
}
override def filterByReadDepth(minimumReadDepth: Int): VariantDataset = {
transformDataset(dataset => dataset.filter(dataset.col("annotation.readDepth") >= minimumReadDepth))
}
override def filterByReferenceReadDepth(minimumReferenceReadDepth: Int): VariantDataset = {
transformDataset(dataset => dataset.filter(dataset.col("annotation.referenceReadDepth") >= minimumReferenceReadDepth))
}
override def filterSingleNucleotideVariants(): VariantDataset = {
transformDataset(dataset => dataset.filter("LENGTH(referenceAllele) > 1 OR LENGTH(alternateAllele) > 1"))
}
override def filterMultipleNucleotideVariants(): VariantDataset = {
transformDataset(dataset => dataset.filter("(LENGTH(referenceAllele) == 1 AND LENGTH(alternateAllele) == 1) OR LENGTH(referenceAllele) != LENGTH(alternateAllele)"))
}
override def filterIndels(): VariantDataset = {
transformDataset(dataset => dataset.filter("LENGTH(referenceAllele) == LENGTH(alternateAllele)"))
}
override def filterToSingleNucleotideVariants(): VariantDataset = {
transformDataset(dataset => dataset.filter("LENGTH(referenceAllele) == 1 AND LENGTH(alternateAllele) == 1"))
}
override def filterToMultipleNucleotideVariants(): VariantDataset = {
transformDataset(dataset => dataset.filter("(LENGTH(referenceAllele) > 1 OR LENGTH(alternateAllele) > 1) AND LENGTH(referenceAllele) == LENGTH(alternateAllele)"))
}
override def filterToIndels(): VariantDataset = {
transformDataset(dataset => dataset.filter("LENGTH(referenceAllele) != LENGTH(alternateAllele)"))
}
override def filterToReferenceName(referenceName: String): VariantDataset = {
transformDataset(dataset => dataset.filter(dataset.col("referenceName").eqNullSafe(referenceName)))
}
}
case class RDDBoundVariantDataset private[ds] (
rdd: RDD[Variant],
sequences: SequenceDictionary,
@transient headerLines: Seq[VCFHeaderLine] = DefaultHeaderLines.allHeaderLines,
optPartitionMap: Option[Array[Option[(ReferenceRegion, ReferenceRegion)]]] = None) extends VariantDataset {
/**
* A SQL Dataset of reads.
*/
lazy val dataset: Dataset[VariantProduct] = {
import spark.implicits._
spark.createDataset(rdd.map(VariantProduct.fromAvro))
}
def replaceSequences(
newSequences: SequenceDictionary): VariantDataset = {
copy(sequences = newSequences)
}
def replaceHeaderLines(newHeaderLines: Seq[VCFHeaderLine]): VariantDataset = {
copy(headerLines = newHeaderLines)
}
}
sealed abstract class VariantDataset extends AvroGenomicDataset[Variant, VariantProduct, VariantDataset] with VCFSupportingGenomicDataset[Variant, VariantProduct, VariantDataset] {
protected val productFn = VariantProduct.fromAvro(_)
protected val unproductFn = (v: VariantProduct) => v.toAvro
@transient val uTag: TypeTag[VariantProduct] = typeTag[VariantProduct]
/**
* Save the VCF headers to disk.
*
* @param filePath The filepath to the file where we will save the VCF headers.
*/
def saveVcfHeaders(filePath: String): Unit = {
// write vcf headers to file
VCFHeaderUtils.write(new VCFHeader(headerLines.toSet),
new Path("%s/_header".format(filePath)),
rdd.context.hadoopConfiguration,
false,
false)
}
override protected def saveMetadata(filePath: String): Unit = {
savePartitionMap(filePath)
saveSequences(filePath)
saveVcfHeaders(filePath)
}
protected def buildTree(rdd: RDD[(ReferenceRegion, Variant)])(
implicit tTag: ClassTag[Variant]): IntervalArray[ReferenceRegion, Variant] = {
IntervalArray(rdd, VariantArray.apply(_, _))
}
def union(rdds: VariantDataset*): VariantDataset = {
val iterableRdds = rdds.toSeq
VariantDataset(rdd.context.union(rdd, iterableRdds.map(_.rdd): _*),
iterableRdds.map(_.sequences).fold(sequences)(_ ++ _),
(headerLines ++ iterableRdds.flatMap(_.headerLines)).distinct)
}
override def transformDataset(
tFn: Dataset[VariantProduct] => Dataset[VariantProduct]): VariantDataset = {
DatasetBoundVariantDataset(tFn(dataset), sequences, headerLines)
}
override def transformDataset(
tFn: JFunction[Dataset[VariantProduct], Dataset[VariantProduct]]): VariantDataset = {
DatasetBoundVariantDataset(tFn.call(dataset), sequences, headerLines)
}
/**
* @return Returns this VariantDataset as a VariantContextDataset.
*/
def toVariantContexts(): VariantContextDataset = {
new RDDBoundVariantContextDataset(rdd.map(VariantContext(_)),
sequences,
Seq.empty[Sample],
headerLines,
optPartitionMap = optPartitionMap)
}
/**
* Filter this VariantDataset to filters passed (VCF column 7 "FILTER" value PASS).
*
* @return VariantDataset filtered to filters passed.
*/
def filterToFiltersPassed(): VariantDataset = {
transform((rdd: RDD[Variant]) => rdd.filter(_.getFiltersPassed))
}
/**
* Filter this VariantDataset by quality (VCF column 6 "QUAL"). Variants split
* for multi-allelic sites will also be filtered out.
*
* @param minimumQuality Minimum quality to filter by, inclusive.
* @return VariantDataset filtered by quality.
*/
def filterByQuality(minimumQuality: Double): VariantDataset = {
transform((rdd: RDD[Variant]) => rdd.filter(v => !(Option(v.getSplitFromMultiAllelic).exists(_ == true)) && Option(v.getQuality).exists(_ >= minimumQuality)))
}
/**
* Filter this VariantDataset by total read depth (VCF INFO reserved key AD, Number=R,
* split for multi-allelic sites into single integer values for the reference allele
* (<code>filterByReferenceReadDepth</code>) and the alternate allele (this method)).
*
* @param minimumReadDepth Minimum total read depth to filter by, inclusive.
* @return VariantDataset filtered by total read depth.
*/
def filterByReadDepth(minimumReadDepth: Int): VariantDataset = {
transform((rdd: RDD[Variant]) => rdd.filter(v => Option(v.getAnnotation().getReadDepth).exists(_ >= minimumReadDepth)))
}
/**
* Filter this VariantDataset by reference total read depth (VCF INFO reserved key AD, Number=R,
* split for multi-allelic sites into single integer values for the alternate allele
* (<code>filterByReadDepth</code>) and the reference allele (this method)).
*
* @param minimumReferenceReadDepth Minimum reference total read depth to filter by, inclusive.
* @return VariantDataset filtered by reference total read depth.
*/
def filterByReferenceReadDepth(minimumReferenceReadDepth: Int): VariantDataset = {
transform((rdd: RDD[Variant]) => rdd.filter(v => Option(v.getAnnotation().getReferenceReadDepth).exists(_ >= minimumReferenceReadDepth)))
}
/**
* Filter single nucleotide variants (SNPs) from this VariantDataset.
*
* @return VariantDataset filtered to remove single nucleotide variants (SNPs).
*/
def filterSingleNucleotideVariants() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => !RichVariant(v).isSingleNucleotideVariant))
}
/**
* Filter multiple nucleotide variants (MNPs) from this VariantDataset.
*
* @return VariantDataset filtered to remove multiple nucleotide variants (MNPs).
*/
def filterMultipleNucleotideVariants() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => !RichVariant(v).isMultipleNucleotideVariant))
}
/**
* Filter insertions and deletions (indels) from this VariantDataset.
*
* @return VariantDataset filtered to remove insertions and deletions (indels).
*/
def filterIndels() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => {
val rv = RichVariant(v)
!rv.isInsertion && !rv.isDeletion
}))
}
/**
* Filter this VariantDataset to include only single nucleotide variants (SNPs).
*
* @return VariantDataset filtered to include only single nucleotide variants (SNPs).
*/
def filterToSingleNucleotideVariants() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => RichVariant(v).isSingleNucleotideVariant))
}
/**
* Filter this VariantDataset to include only multiple nucleotide variants (MNPs).
*
* @return VariantDataset filtered to include only multiple nucleotide variants (MNPs).
*/
def filterToMultipleNucleotideVariants() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => RichVariant(v).isMultipleNucleotideVariant))
}
/**
* Filter this VariantDataset to include only insertions and deletions (indels).
*
* @return VariantDataset filtered to include only insertions and deletions (indels).
*/
def filterToIndels() = {
transform((rdd: RDD[Variant]) => rdd.filter(v => {
val rv = RichVariant(v)
rv.isInsertion || rv.isDeletion
}))
}
/**
* Filter this VariantDataset by reference name to those that match the specified reference name.
*
* @param referenceName Reference name to filter by.
* @return VariantDataset filtered by the specified reference name.
*/
def filterToReferenceName(referenceName: String): VariantDataset = {
transform((rdd: RDD[Variant]) => rdd.filter(v => Option(v.getReferenceName).exists(_.equals(referenceName))))
}
/**
* @param newRdd An RDD to replace the underlying RDD with.
* @return Returns a new VariantDataset with the underlying RDD replaced.
*/
protected def replaceRdd(newRdd: RDD[Variant],
newPartitionMap: Option[Array[Option[(ReferenceRegion, ReferenceRegion)]]] = None): VariantDataset = {
RDDBoundVariantDataset(newRdd, sequences, headerLines, newPartitionMap)
}
/**
* @param elem The variant to get a reference region for.
* @return Returns the singular region this variant covers.
*/
protected def getReferenceRegions(elem: Variant): Seq[ReferenceRegion] = {
Seq(ReferenceRegion(elem))
}
}