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com.fulcrumgenomics.vcf.VariantMask.scala Maven / Gradle / Ivy
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/*
* The MIT License
*
* Copyright (c) 2017 Fulcrum Genomics LLC
*
* Permission is hereby granted, free of charge, to any person obtaining a copy
* of this software and associated documentation files (the "Software"), to deal
* in the Software without restriction, including without limitation the rights
* to use, copy, modify, merge, publish, distribute, sublicense, and/or sell
* copies of the Software, and to permit persons to whom the Software is
* furnished to do so, subject to the following conditions:
*
* The above copyright notice and this permission notice shall be included in
* all copies or substantial portions of the Software.
*
* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR
* IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY,
* FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE
* AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER
* LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM,
* OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN
* THE SOFTWARE.
*/
package com.fulcrumgenomics.vcf
import com.fulcrumgenomics.FgBioDef._
import com.fulcrumgenomics.fasta.SequenceDictionary
import htsjdk.variant.variantcontext.VariantContext
import htsjdk.variant.vcf.VCFFileReader
import scala.collection.mutable
object VariantMask {
/** Generate a variant mask from the provided VCF. */
def apply(path: PathToVcf): VariantMask = apply(new VCFFileReader(path.toFile))
/** Generate a variant mask from the provided VCF reader. */
def apply(reader: VCFFileReader): VariantMask = {
import com.fulcrumgenomics.fasta.Converters.FromSAMSequenceDictionary
val dict = reader.getFileHeader.getSequenceDictionary.fromSam
require(dict != null && dict.length > 0, "Generating a VariantMask requires VCFs contain contig lines.")
apply(reader.iterator(), dict)
}
/** Generates a VariantMask from the variants in the provided iterator. */
def apply(variants: Iterator[VariantContext], dict: SequenceDictionary) = new VariantMask(variants, dict)
}
/**
* Simple mask that loads variants one reference sequence at a time and creates a compact
* representation allowing for rapid querying of whether or not positions are overlapped
* by one or more variants.
*
* @param variants a coordinate sorted iterator of variants
* @param dict the sequence dictionary for the reference
*/
class VariantMask(variants: Iterator[VariantContext], val dict: SequenceDictionary) {
private val iterator = variants.bufferBetter
private var currentMask: mutable.BitSet = new mutable.BitSet(0)
private var currentIndex: Int = -1
private var currentContig: String = "n/a"
private var currentRefLength: Int = -1
advanceTo(0)
/**
* Causes the variant mask to advance to the chosen reference sequence and load up the mask.
*/
private def advanceTo(refIndex: Int): Unit = {
require(refIndex > this.currentIndex, "Requested to navigate to an earlier contig. Is your VCF sorted?")
require(refIndex >= 0 && refIndex < dict.length, s"Requested navigation to contig #$refIndex which is invalid.")
val ref = dict(refIndex)
val bits = new mutable.BitSet(ref.length)
iterator.dropWhile(v => dict(v.getContig).index < refIndex)
.takeWhile(v => dict(v.getContig).index == refIndex)
.filterNot(v => v.isFiltered)
.foreach { v =>
forloop (from=v.getStart, until=v.getEnd+1) { i => bits(i-1) = true }
}
this.currentMask = bits
this.currentIndex = refIndex
this.currentContig = dict(refIndex).name
this.currentRefLength = dict(refIndex).length
}
/** Returns true if the position is overlapped by one or more variants, false otherwise. */
def isVariant(refIndex: Int, position: Int): Boolean = {
if (refIndex != this.currentIndex) advanceTo(refIndex)
require(position > 0 && position <= this.currentRefLength, "Position outside of 1-contig length.")
this.currentMask(position-1)
}
/** Returns true if the position is overlapped by one or more variants, false otherwise. */
def isVariant(refName: String, position: Int): Boolean = isVariant(dict(refName).index, position)
}
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