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0.6.0 release document updates.
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PiperOrigin-RevId: 191805185
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pichuan authored and Pi-Chuan Chang committed Apr 10, 2018
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20 changes: 10 additions & 10 deletions docs/deepvariant-case-study.md
Original file line number Diff line number Diff line change
Expand Up @@ -40,9 +40,9 @@ Set a number of shell variables, to make what follows easier to read.
```bash
BASE="${HOME}/case-study"
BUCKET="gs://deepvariant"
BIN_VERSION="0.5.1"
MODEL_VERSION="0.5.0"
MODEL_CL="182548131"
BIN_VERSION="0.6.0"
MODEL_VERSION="0.6.0"
MODEL_CL="191676894"

# Note that we don't specify the CL number for the binary, only the bin version.
BIN_BUCKET="${BUCKET}/binaries/DeepVariant/${BIN_VERSION}/DeepVariant-${BIN_VERSION}+cl-*"
Expand Down Expand Up @@ -260,11 +260,11 @@ the postprocess\_variants step, so the full call would look instead like:

Step | wall time
---------------------------------- | -------------
`make_examples` | 5h 37m 42s
`call_variants` | 11h 0m 29s
`postprocess_variants` (no gVCF) | 21m 54s
`postprocess_variants` (with gVCF) | 58m 24s
total time (single machine) | 17h - 17h 36m
`make_examples` | 5h 27m 24s
`call_variants` | 11h 11m 53s
`postprocess_variants` (no gVCF) | 21m 5s
`postprocess_variants` (with gVCF) | 58m 51s
total time (single machine) | 17h - 17h 38m

## Variant call quality

Expand Down Expand Up @@ -297,5 +297,5 @@ pkrusche/hap.py /opt/hap.py/bin/hap.py \

Type | # FN | # FP | Recall | Precision | F1\_Score
----- | ---- | ---- | -------- | --------- | ---------
INDEL | 2116 | 1066 | 0.995447 | 0.997794 | 0.996619
SNP | 1684 | 916 | 0.999447 | 0.999699 | 0.999573
INDEL | 1505 | 1133 | 0.996762 | 0.997660 | 0.997211
SNP | 1526 | 933 | 0.999499 | 0.999694 | 0.999597
18 changes: 9 additions & 9 deletions docs/deepvariant-exome-case-study.md
Original file line number Diff line number Diff line change
Expand Up @@ -22,9 +22,9 @@ Set a number of shell variables, to make what follows easier to read.
```bash
BASE="${HOME}/exome-case-study"
BUCKET="gs://deepvariant"
BIN_VERSION="0.5.1"
MODEL_VERSION="0.5.0"
MODEL_CL="181413382"
BIN_VERSION="0.6.0"
MODEL_VERSION="0.6.0"
MODEL_CL="191676894"

# Note that we don't specify the CL number for the binary, only the bin version.
BIN_BUCKET="${BUCKET}/binaries/DeepVariant/${BIN_VERSION}/DeepVariant-${BIN_VERSION}+cl-*"
Expand Down Expand Up @@ -213,11 +213,11 @@ study](deepvariant-case-study.md#run_postprocess_variants).

Step | wall time
---------------------------------- | ---------
`make_examples` | 69m 22s
`call_variants` | 6m 32s
`make_examples` | 65m 45s
`call_variants` | 6m 21s
`postprocess_variants` (no gVCF) | 0m 13s
`postprocess_variants` (with gVCF) | 0m 41s
total time (single machine) | ~ 1h 16m
`postprocess_variants` (with gVCF) | 1m 24s
total time (single machine) | ~ 1h 13m

## Variant call quality

Expand Down Expand Up @@ -260,8 +260,8 @@ Here are the results:

Type | # FN | # FP | Recall | Precision | F1\_Score
----- | ---- | ---- | -------- | --------- | ---------
INDEL | 140 | 51 | 0.946154 | 0.979898 | 0.962730
SNP | 45 | 24 | 0.998666 | 0.999288 | 0.998977
INDEL | 127 | 35 | 0.951154 | 0.986193 | 0.968357
SNP | 43 | 26 | 0.998725 | 0.999229 | 0.998977

## Separate models for calling whole genome and exome data

Expand Down
20 changes: 10 additions & 10 deletions docs/deepvariant-quick-start.md
Original file line number Diff line number Diff line change
Expand Up @@ -66,9 +66,9 @@ The DeepVariant binaries can be downloaded to your instance with the

```bash
BUCKET="gs://deepvariant"
BIN_VERSION="0.5.1"
MODEL_VERSION="0.5.0"
MODEL_CL="182548131"
BIN_VERSION="0.6.0"
MODEL_VERSION="0.6.0"
MODEL_CL="191676894"

# Note that we don't specify the CL number for the binary, only the bin version.
BIN_BUCKET="${BUCKET}/binaries/DeepVariant/${BIN_VERSION}/DeepVariant-${BIN_VERSION}+cl-*"
Expand Down Expand Up @@ -117,13 +117,13 @@ In this bucket models are organized into subdirectories by program name and
version, such as for the model to run on whole genome sequencing data:

```
DeepVariant/0.5.0/DeepVariant-inception_v3-0.5.0+cl-182548131.data-wgs_standard/
DeepVariant/0.6.0/DeepVariant-inception_v3-0.6.0+cl-191676894.data-wgs_standard/
```

and for the model to run on whole exome sequencing data.

```
DeepVariant/0.5.0/DeepVariant-inception_v3-0.5.0+cl-181413382.data-wes_standard/
DeepVariant/0.6.0/DeepVariant-inception_v3-0.6.0+cl-191676894.data-wes_standard/
```

The model files are tagged with the program name and version, model name and the
Expand Down Expand Up @@ -322,10 +322,10 @@ sudo docker pull pkrusche/hap.py
sudo docker run -it -v `pwd`:/data pkrusche/hap.py /opt/hap.py/bin/hap.py \
/data/quickstart-testdata/test_nist.b37_chr20_100kbp_at_10mb.vcf.gz \
"/data/${FINAL_OUTPUT_VCF}" \
--preprocess-truth \
-f /data/quickstart-testdata/test_nist.b37_chr20_100kbp_at_10mb.bed \
-r "/data/${REF}" \
-o "/data/${OUTPUT_DIR}/happy.output" \
--engine=vcfeval \
-l chr20:10000000-10010000
```

Expand All @@ -334,8 +334,8 @@ 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 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 14 0 10 0 1 1 0.714286 1 NaN NaN 0.333333 1.166667
INDEL PASS 4 4 0 14 0 10 0 1 1 0.714286 1 NaN NaN 0.333333 1.166667
SNP ALL 44 44 0 60 0 16 0 1 1 0.266667 1 1.2 1.307692 0.333333 0.395349
SNP PASS 44 44 0 60 0 16 0 1 1 0.266667 1 1.2 1.307692 0.333333 0.395349
INDEL ALL 4 4 0 13 0 9 0 1 1 0.692308 1 NaN NaN 0.333333 1.000000
INDEL PASS 4 4 0 13 0 9 0 1 1 0.692308 1 NaN NaN 0.333333 1.000000
SNP ALL 44 44 0 60 0 16 0 1 1 0.266667 1 1.2 1.307692 0.333333 0.363636
SNP PASS 44 44 0 60 0 16 0 1 1 0.266667 1 1.2 1.307692 0.333333 0.363636
```

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