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Construction Benchmarks

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Jouni Siren edited this page Mar 10, 2018 · 35 revisions

Hardware and software

One Amazon EC2 i3.8xlarge instance:

  • 32 cores of Xeon E5-2686 v4
  • 244 gigabytes of memory
  • /: EBS General Purpose SSD (gp2), 160 GB
  • /large_disk: Instance Store: 4x 1.9 TB NVMe SSD in RAID 0
  • A recent version of VG

Directory structure

  • ~/vg: VG
  • ~/data: Downloaded data
  • ~/graphs: VG graphs
  • ~/indexes: GBWT/GCSA2 indexes
  • ~/logs: Construction logs

Data

The benchmarks are based on 1000 Genomes Project phase 3 data. In order to download the data, run the following in ~/data:

#!/bin/bash

# Get the reference
REFERENCE=hs37d5.fa
rm -f ${REFERENCE} ${REFERENCE}.gz
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/phase2_reference_assembly_sequence/${REFERENCE}.gz
gunzip ${REFERENCE}

# Get the variants
VARIANTS=ALL.wgs.phase3_shapeit2_mvncall_integrated_v5b.20130502.sites.vcf.gz
SHORTV=all.vcf.gz
rm -f ${SHORTV} ${SHORTV}.tbi
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/${VARIANTS}
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/${VARIANTS}.tbi
mv ${VARIANTS} ${SHORTV}
mv ${VARIANTS}.tbi ${SHORTV}.tbi

# Get the phasings for chromosomes 1-22
PREFIX=ALL.chr
SPREFIX=chr
SUFFIX=.phase3_shapeit2_mvncall_integrated_v5a.20130502.genotypes.vcf.gz
SSUFFIX=.vcf.gz
for i in $(seq 1 22; echo X; echo Y)
do
  NAME=${PREFIX}${i}${SUFFIX}
  SHORT=${SPREFIX}${i}${SSUFFIX}
  rm -f ${SHORT} ${SHORT}.tbi
  wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/${NAME}
  wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/${NAME}.tbi
  mv ${NAME} ${SHORT}
  mv ${NAME}.tbi ${SHORT}.tbi
done

# Get the phasings for chromosomes X and Y
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz.tbi
mv ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz chrX.vcf.gz
mv ALL.chrX.phase3_shapeit2_mvncall_integrated_v1b.20130502.genotypes.vcf.gz.tbi chrX.vcf.gz.tbi
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chrY.phase3_integrated_v2a.20130502.genotypes.vcf.gz
wget ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chrY.phase3_integrated_v2a.20130502.genotypes.vcf.gz.tbi
mv ALL.chrY.phase3_integrated_v2a.20130502.genotypes.vcf.gz chrY.vcf.gz
mv ALL.chrY.phase3_integrated_v2a.20130502.genotypes.vcf.gz.tbi chrY.vcf.gz.tbi

Graph construction

We build VG graphs with variants embedded as alt paths. Node size is limited to 32 bases for better GCSA2 query performance. In order to build the graphs, run the following in ~/graphs:

#!/bin/bash

VG=~/vg/bin/vg
DATA=~/data
REFERENCE=${DATA}/hs37d5.fa
MAPPING=node_mapping

# Build the VG graphs
(seq 1 22; echo X; echo Y) | parallel -j 24 \
    "$VG construct -r $REFERENCE -v ${DATA}/chr{}.vcf.gz -R {} -C -a > chr{}.vg"

# Harmonize the node ids
$VG ids -j -m $MAPPING  $(for i in $(seq 1 22; echo X; echo Y); do echo chr${i}.vg; done)
cp $MAPPING ${MAPPING}.backup

This will take several hours. The vg ids command produces an empty node mapping that is useful for some GCSA2 construction options.

GBWT construction

We run 12 construction jobs in parallel, starting from the largest chromosomes. The last jobs will finish soon after chromosome 2. Memory usage is roughly 1 GB for each 10 Mbp. Run the following in ~/indexes to build per-chromosome GBWT indexes.

#!/bin/bash

(echo X; seq 1 22; echo Y) | parallel -j 12 "./build_gbwt.sh {}"

Script build_gbwt.sh contains the following:

#!/bin/bash
# $1 - chromosome

VG=~/vg/bin/vg
DATA=~/data
GRAPHS=~/graphs
LOGS=~/logs
BASENAME=chr${1}

LOGFILE=${LOGS}/gbwt_${BASENAME}.log
rm -f $LOGFILE

START=$(date +%s)
echo "Start time: $START" >> $LOGFILE
echo >> $LOGFILE

$VG index -G ${BASENAME}.gbwt -v ${DATA}/${BASENAME}.vcf.gz \
    -F ${BASENAME}.threads -p ${GRAPHS}/${BASENAME}.vg 2>> $LOGFILE

STOP=$(date +%s)
echo >> $LOGFILE
echo "Finish time: $STOP" >> $LOGFILE
echo "Total time: $(($STOP-$START)) seconds" >> $LOGFILE

We can also merge the individual GBWT indexes into a single file. This takes around 10 minutes and less than 30 gigabytes of memory using a single thread.

#!/bin/bash

VG=~/vg/bin/vg
LOGS=~/logs
OUTPUT=all.gbwt

LOGFILE=${LOGS}/gbwt_merge.log
rm -f $LOGFILE

$VG gbwt -f -o $OUTPUT -p \
    $(for i in $(seq 1 22; echo X; echo Y); do echo chr${i}.gbwt; done) 2>> $LOGFILE
Chromosome Time (h) GBWT (MB) locate() (MB) Total (MB)
1 24.70 568 504 1072
2 27.12 603 554 1157
3 22.62 492 456 947
4 22.13 484 450 934
5 20.31 442 415 857
6 19.45 428 396 825
7 18.27 407 374 781
8 17.75 388 364 751
9 13.92 326 272 598
10 15.38 370 320 689
11 15.60 367 312 679
12 14.87 357 300 657
13 11.13 259 218 478
14 10.22 246 203 449
15 9.30 231 187 418
16 10.36 255 206 461
17 8.97 224 179 403
18 8.58 209 175 384
19 6.95 181 139 319
20 6.84 169 133 302
21 4.18 111 83 195
22 4.05 110 83 193
X 12.86 329 219 548
Y 0.06 6 1 7
Total 28.97 7561 6543 14104
Merged 0.14 7565 7379 14944
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