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Initial release of DeepVariant
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ThomasColthurst committed Dec 1, 2017
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12 changes: 12 additions & 0 deletions .gitignore
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# Compiled python files.
*.pyc

# Emacs temporary files
*~

# Other temporary files
*#

bazel-*

**/.ipynb_checkpoints
9 changes: 9 additions & 0 deletions AUTHORS
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# This is the official list of DeepVariant authors for copyright purposes.
# This file is distinct from the CONTRIBUTORS files.
# See the latter for an explanation.

# Names should be added to this file as:
# Name or Organization <email address>
# The email address is not required for organizations.

Google Inc.
46 changes: 46 additions & 0 deletions BUILD
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load("//tools:zip_dir.bzl", "zip_dir")

package(
default_visibility = [
"//visibility:public",
],
)

test_suite(
name = "smoke_tests",
tests = [
"//deepvariant/core:smoke_tests",
"//deepvariant/environment_tests:smoke_tests",
"//deepvariant/testing:smoke_tests",
],
)

filegroup(
name = "binaries",
srcs = [
"//deepvariant:binaries",
],
)

exports_files(["LICENSE"])

filegroup(
name = "licenses",
srcs = [
":LICENSE",
"//third_party:abseil_cpp.LICENSE", # redacted
"//third_party:boost.LICENSE",
"//third_party:tensorflow.LICENSE", # redacted
"//third_party:tensorflow_models.LICENSE", # redacted
"@com_google_protobuf//:LICENSE",
"@com_googlesource_code_re2//:LICENSE",
"@htslib//:LICENSE",
"@libssw//:README.md", # SSW license embedded in the README.
],
)

zip_dir(
name = "licenses_zip",
srcs = [":licenses"],
zipname = "licenses.zip",
)
12 changes: 12 additions & 0 deletions CONTRIBUTING.md
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# How to Contribute

Sorry, we don't take contributions to the main DeepVariant codebase at the
moment. We expect to open the project for contributions in 1H 2018 after we
configure continuous integration testing on github, formalize the external code
review process, among other technical redacted
codebase maintains its current high quality coding and testing standards.

In the meantime, please feel free to fork the DeepVariant codebase and prepare
in your fork any patches you'd eventually like to contribute and let us know
about them so we can prioritize putting the necessary infrastructure in place
to accept external contributions.
26 changes: 26 additions & 0 deletions LICENSE
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Copyright 2017 Google Inc.

Redistribution and use in source and binary forms, with or without modification,
are permitted provided that the following conditions are met:

1. Redistributions of source code must retain the above copyright notice, this
list of conditions and the following disclaimer.

2. Redistributions in binary form must reproduce the above copyright notice,
this list of conditions and the following disclaimer in the documentation
and/or other materials provided with the distribution.

3. Neither the name of the copyright holder nor the names of its contributors
may be used to endorse or promote products derived from this software without
specific prior written permission.

THIS SOFTWARE IS PROVIDED BY THE COPYRIGHT HOLDERS AND CONTRIBUTORS "AS IS" AND
ANY EXPRESS OR IMPLIED WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE IMPLIED
WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE ARE
DISCLAIMED. IN NO EVENT SHALL THE COPYRIGHT HOLDER OR CONTRIBUTORS BE LIABLE FOR
ANY DIRECT, INDIRECT, INCIDENTAL, SPECIAL, EXEMPLARY, OR CONSEQUENTIAL DAMAGES
(INCLUDING, BUT NOT LIMITED TO, PROCUREMENT OF SUBSTITUTE GOODS OR SERVICES;
LOSS OF USE, DATA, OR PROFITS; OR BUSINESS INTERRUPTION) HOWEVER CAUSED AND ON
ANY THEORY OF LIABILITY, WHETHER IN CONTRACT, STRICT LIABILITY, OR TORT
(INCLUDING NEGLIGENCE OR OTHERWISE) ARISING IN ANY WAY OUT OF THE USE OF THIS
SOFTWARE, EVEN IF ADVISED OF THE POSSIBILITY OF SUCH DAMAGE.
85 changes: 85 additions & 0 deletions README.md
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# DeepVariant

DeepVariant is an analysis pipeline that uses a deep neural network to call
genetic variants from next-generation DNA sequencing data.

# Documentation

<!-- mdlint off(URL_BAD_G3DOC_PATH) -->

* [DeepVariant release notes](docs/deepvariant-release-notes.md)
* [Building and testing DeepVariant](docs/deepvariant-build-test.md)
* [DeepVariant quick start](docs/deepvariant-quick-start.md)
* [DeepVariant via Docker](docs/deepvariant-docker.md)
* [DeepVariant whole genome case study](docs/deepvariant-case-study.md)
* [DeepVariant exome case study](docs/deepvariant-exome-case-study.md)
* [DeepVariant details](docs/deepvariant-details.md)
* [DeepVariant model training](docs/deepvariant-model-training.md)

<!-- mdlint on -->

<a name="about"></a>
## About DeepVariant

redacted

## Support

The Genomics team in Google Brain actively supports DeepVariant and are always
interested in improving the quality of DeepVariant. If you run into an issue, we
recommend you follow one of two approaches to getting the issue resolved.

If you have found a bug in DeepVariant - i.e., the code itself needs to be
fixed - please report the problem on our [Issue
tracker](https://github.com/google/deepvariant/issues). Make sure to add enough
detail to your report that we can reproduce the problem and fix it. We encourage
including links to snippets of BAM/VCF/etc. files that provoke the bug, if
possible. Depending on the severity of the issue we may patch DeepVariant
immediately with the fix or roll it into the next release.

If you have general questions about DeepVariant usage, please post your question
to [BioStars](https://www.biostars.org/), adding the tag 'deepvariant'. We
monitor [BioStars posts tagged with
DeepVariant](https://www.biostars.org/t/deepvariant/) and will respond as needed
there.

## Contributing

Interested in contributing? See [CONTRIBUTING](CONTRIBUTING.md).

## License

DeepVariant is licensed under the terms of the [BSD-3-Clause license](LICENSE).

## Links

redacted

## Acknowledgements

DeepVariant happily makes use of many open source packages. We'd like to
specifically call out a few key ones:

* [Boost Graph Library](http://www.boost.org/doc/libs/1_65_1/libs/graph/doc/index.html)

* [CLIF](https://github.com/google/clif)

* [GNU Parallel](https://www.gnu.org/software/parallel/)

* [htslib & samtools](http://www.htslib.org/)

* [numpy](http://www.numpy.org/)

* [scipy](https://www.scipy.org/)

* [SSW Library](https://github.com/mengyao/Complete-Striped-Smith-Waterman-Library)

* [TensorFlow and Slim](https://www.tensorflow.org/)

We thank all of the developers and contributors to these packages for their
work.


## Disclaimer

* This is not an official Google product.
73 changes: 73 additions & 0 deletions WORKSPACE
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workspace(name = "genomics")

# Abseil libraries
git_repository(
name = "com_google_absl_py",
# redacted
commit = "e7e488817ecce91d290d7fcce997b8dda1c6ee77",
remote = "https://github.com/abseil/abseil-py.git",
)
# Note: com_google_absl (the C++ abseil library) is provided by TensorFlow.

# Note: we are using a post-1.6 build release that fixes a double-free.
new_http_archive(
name = "htslib",
build_file = "third_party/htslib.BUILD",
sha256 = "7743e379fa27fdbaa81d4efc97adc5e0b2c5ade3cd09a93e311ea0c6b3a4ddf6",
strip_prefix = "htslib-57fa9be5255475b2cf9331db32848590a8ea8eb9",
urls = [
"https://github.com/samtools/htslib/archive/57fa9be5255475b2cf9331db32848590a8ea8eb9.zip"
],
)

new_http_archive(
name = "libssw",
build_file = "third_party/libssw.BUILD",
sha256 = "10b9305e5a580ee5319f736d3581916f6c873ef4475bd0c0e564c2934334732c",
strip_prefix = "Complete-Striped-Smith-Waterman-Library-1.0",
urls = [
"https://github.com/mengyao/Complete-Striped-Smith-Waterman-Library/archive/v1.0.tar.gz",
],
)

# Import tensorflow. Note path.
local_repository(
name = "org_tensorflow",
path = "../tensorflow",
)

# Required boilerplate for tf_workspace(), apparently.
http_archive(
name = "io_bazel_rules_closure",
sha256 = "25f5399f18d8bf9ce435f85c6bbf671ec4820bc4396b3022cc5dc4bc66303609",
strip_prefix = "rules_closure-0.4.2",
urls = [
"http://mirror.bazel.build/github.com/bazelbuild/rules_closure/archive/0.4.2.tar.gz", # 2017-08-29
"https://github.com/bazelbuild/rules_closure/archive/0.4.2.tar.gz",
],
)

# Import all of the tensorflow dependencies.
load("@org_tensorflow//tensorflow:workspace.bzl", "tf_workspace")

tf_workspace(tf_repo_name = "org_tensorflow")

# Pull in slim.
# slim is located inside the tensorflow/models repository.
# The slim subdirectory in the tensorflow/models repository has its own
# WORKSPACE file so we need to strip a prefix to make it the root of the
# repository.
# The prefix is "models-<commit>/slim"
# where commit is the full commit.
# Pin to the lastest version that builds for now. See b/68431494#comment4.
http_archive(
name = "org_tensorflow_slim",
strip_prefix = "models-6d140f139cf02ceb87afa76024c4b502a556a3e5/slim",
urls = ["https://github.com/tensorflow/models/archive/6d140f1.tar.gz"],
)

new_local_repository(
name = "clif",
build_file = "third_party/clif.BUILD",
path = "/usr/local",
)
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