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DeepVariant Complete Genomics G400 case study

In this case study, we describe applying DeepVariant to a Complete Genomics G400 sample. Then we assess the quality of the DeepVariant variant calls with hap.py.

To make it faster to run over this case study, we run only on chromosome 20.

For how to prepare environment, the steps are the same as this doc.

Download Complete Genomics G400 HG002 chr20 BAM

mkdir -p input

HTTPDIR=https://storage.googleapis.com/deepvariant/complete-case-study-testdata

curl ${HTTPDIR}/HG002.complete_g400.V350151728.grch38.chr20.bam > input/HG002.complete_g400.V350151728.grch38.chr20.bam

curl ${HTTPDIR}/HG002.complete_g400.V350151728.grch38.chr20.bam.bai > input/HG002.complete_g400.V350151728.grch38.chr20.bam.bai

Download Genome in a Bottle Benchmarks for HG002

mkdir -p benchmark

FTPDIR=ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv4.2.1/GRCh38

curl ${FTPDIR}/HG002_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed > benchmark/HG002_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed
curl ${FTPDIR}/HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz > benchmark/HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz
curl ${FTPDIR}/HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz.tbi > benchmark/HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz.tbi

Download Complete Genomics G400 model

HTTPDIR=https://storage.googleapis.com/deepvariant/complete-case-study-testdata

curl ${HTTPDIR}/complete-g400/weights-60-0.993753.ckpt.data-00000-of-00001 > input/weights-60-0.993753.ckpt.data-00000-of-00001

curl ${HTTPDIR}/complete-g400/weights-60-0.993753.ckpt.index > input/weights-60-0.993753.ckpt.index

Running DeepVariant with one command

On a CPU-only machine:

mkdir -p output
mkdir -p output/intermediate_results_dir

BIN_VERSION="1.6.1"

sudo docker run \
  -v "${PWD}/input":"/input" \
  -v "${PWD}/output":"/output" \
  -v "${PWD}/reference":"/reference" \
  google/deepvariant:"${BIN_VERSION}" \
  /opt/deepvariant/bin/run_deepvariant \
  --model_type WGS \
  --ref /reference/GRCh38_no_alt_analysis_set.fasta \
  --reads /input/HG002.complete_g400.V350151728.grch38.chr20.bam \
  --output_vcf /output/HG002.output.vcf.gz \
  --output_gvcf /output/HG002.output.g.vcf.gz \
  --num_shards $(nproc) \
  --regions chr20 \
  --intermediate_results_dir /output/intermediate_results_dir \
  --customized_model /input/weights-60-0.993753.ckpt

For running on GPU machines, or using Singularity instead of Docker, see Quick Start.

Benchmark on chr20

mkdir -p happy

sudo docker pull jmcdani20/hap.py:v0.3.12

sudo docker run \
  -v "${PWD}/benchmark":"/benchmark" \
  -v "${PWD}/input":"/input" \
  -v "${PWD}/output":"/output" \
  -v "${PWD}/reference":"/reference" \
  -v "${PWD}/happy:/happy" \
  jmcdani20/hap.py:v0.3.12 /opt/hap.py/bin/hap.py \
  /benchmark/HG002_GRCh38_1_22_v4.2.1_benchmark.vcf.gz \
  /output/HG002.output.vcf.gz \
  -f /benchmark/HG002_GRCh38_1_22_v4.2.1_benchmark_noinconsistent.bed \
  -r /reference/GRCh38_no_alt_analysis_set.fasta \
  -o /happy/happy.output \
  --engine=vcfeval \
  --pass-only \
  -l chr20

Output:

Benchmarking Summary:
Type Filter  TRUTH.TOTAL  TRUTH.TP  TRUTH.FN  QUERY.TOTAL  QUERY.FP  QUERY.UNK  FP.gt  FP.al  METRIC.Recall  METRIC.Precision  METRIC.Frac_NA  METRIC.F1_Score  TRUTH.TOTAL.TiTv_ratio  QUERY.TOTAL.TiTv_ratio  TRUTH.TOTAL.het_hom_ratio  QUERY.TOTAL.het_hom_ratio
INDEL    ALL        11256     11130       126        20925        31       9340     26      4       0.988806          0.997324        0.446356         0.993047                     NaN                     NaN                   1.561710                   2.049106
INDEL   PASS        11256     11130       126        20925        31       9340     26      4       0.988806          0.997324        0.446356         0.993047                     NaN                     NaN                   1.561710                   2.049106
  SNP    ALL        71333     70949       384        85736        50      14689     28      6       0.994617          0.999296        0.171328         0.996951                2.314904                2.102286                   1.715978                   1.753768
  SNP   PASS        71333     70949       384        85736        50      14689     28      6       0.994617          0.999296        0.171328         0.996951                2.314904                2.102286                   1.715978                   1.753768

To summarize:

Type TRUTH.TP TRUTH.FN QUERY.FP METRIC.Recall METRIC.Precision METRIC.F1_Score
INDEL 11130 126 31 0.988806 0.997324 0.993047
SNP 70949 384 50 0.994617 0.999296 0.996951