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Minor updates to DeepTrio Pacbio case study.
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PiperOrigin-RevId: 345994033
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sgoe1 authored and copybara-github committed Dec 7, 2020
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15 changes: 9 additions & 6 deletions docs/deeptrio-pacbio-case-study.md
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# Using DeepTrio for small variant calling from the trio sequenced with PacBio HiFi

In this case study, we describe applying DeepTrio to a real WGS trio. Then we
assess the quality of the DeepTrio variant calls with `hap.py`. In addition we
evaluate a mendelian violation rate for a merged VCF.
In this case study, we describe applying [DeepTrio](deeptrio-details.md) to a
real PacBio WGS trio. Then we assess the quality of the DeepTrio variant calls
with `hap.py`. In addition we evaluate a Mendelian violation rate for a merged
VCF.

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

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mkdir -p output
mkdir -p output/intermediate_results_dir

BIN_VERSION=1.0.1rc
BIN_VERSION="1.1.0"

sudo docker pull gcr.io/deepvariant-docker/deeptrio:"${BIN_VERSION}"
sudo apt -y update
sudo apt-get -y install docker.io
sudo docker pull google/deepvariant:deeptrio-"${BIN_VERSION}"

time sudo docker run \
-v "${PWD}/input":"/input" \
-v "${PWD}/output":"/output" \
-v "${PWD}/reference":"/reference" \
gcr.io/deepvariant-docker/deeptrio:"${BIN_VERSION}" \
google/deepvariant:deeptrio-"${BIN_VERSION}" \
/opt/deepvariant/bin/deeptrio/run_deeptrio \
--model_type PACBIO \
--ref /reference/GRCh38_no_alt_analysis_set.fasta \
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