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Update quickstart
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PiperOrigin-RevId: 702046600
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kishwarshafin authored and pichuan committed Dec 3, 2024
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14 changes: 8 additions & 6 deletions docs/deepvariant-quick-start.md
Original file line number Diff line number Diff line change
Expand Up @@ -33,7 +33,7 @@ If you want to compile the DeepVariant binaries for yourself, we also have a
### Get Docker image

```bash
BIN_VERSION="1.7.0"
BIN_VERSION="1.8.0"

sudo apt -y update
sudo apt-get -y install docker.io
Expand Down Expand Up @@ -124,6 +124,7 @@ sudo docker run \
google/deepvariant:"${BIN_VERSION}" \
/opt/deepvariant/bin/run_deepvariant \
--model_type=WGS \
--vcf_stats_report=true \
--ref=/input/ucsc.hg19.chr20.unittest.fasta \
--reads=/input/NA12878_S1.chr20.10_10p1mb.bam \
--regions "chr20:10,000,000-10,010,000" \
Expand Down Expand Up @@ -194,6 +195,7 @@ singularity run -B /usr/lib/locale/:/usr/lib/locale/ \
docker://google/deepvariant:"${BIN_VERSION}" \
/opt/deepvariant/bin/run_deepvariant \
--model_type=WGS \ **Replace this string with exactly one of the following [WGS,WES,PACBIO,ONT_R104,HYBRID_PACBIO_ILLUMINA]**
--vcf_stats_report=true \
--ref="${INPUT_DIR}"/ucsc.hg19.chr20.unittest.fasta \
--reads="${INPUT_DIR}"/NA12878_S1.chr20.10_10p1mb.bam \
--regions "chr20:10,000,000-10,010,000" \
Expand Down Expand Up @@ -265,16 +267,16 @@ You should see output similar to the following.
```
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 4 4 0 13 0 9 0 0 1.0 1.0 0.692308 1.0 NaN NaN 0.333333 1.000000
INDEL PASS 4 4 0 13 0 9 0 0 1.0 1.0 0.692308 1.0 NaN NaN 0.333333 1.000000
SNP ALL 44 44 0 60 0 16 0 0 1.0 1.0 0.266667 1.0 1.2 1.307692 0.333333 0.363636
SNP PASS 44 44 0 60 0 16 0 0 1.0 1.0 0.266667 1.0 1.2 1.307692 0.333333 0.363636
INDEL ALL 4 4 0 13 0 9 0 0 1.000000 1.0 0.692308 1.000000 NaN NaN 0.333333 1.000000
INDEL PASS 4 4 0 13 0 9 0 0 1.000000 1.0 0.692308 1.000000 NaN NaN 0.333333 1.000000
SNP ALL 44 43 1 59 0 16 0 0 0.977273 1.0 0.271186 0.988506 1.2 1.36 0.333333 0.340909
SNP PASS 44 43 1 59 0 16 0 0 0.977273 1.0 0.271186 0.988506 1.2 1.36 0.333333 0.340909
```

[BAM]: http://genome.sph.umich.edu/wiki/BAM
[BWA]: https://academic.oup.com/bioinformatics/article/25/14/1754/225615/Fast-and-accurate-short-read-alignment-with
[docker build]: https://docs.docker.com/engine/reference/commandline/build/
[Dockerfile]: https://github.com/google/deepvariant/blob/r1.7/Dockerfile
[Dockerfile]: https://github.com/google/deepvariant/blob/r1.8/Dockerfile
[FASTA]: https://en.wikipedia.org/wiki/FASTA_format
[Quick Start in r0.7]: https://github.com/google/deepvariant/blob/r0.7/docs/deepvariant-quick-start.md
[VCF]: https://samtools.github.io/hts-specs/VCFv4.3.pdf
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