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ielis authored May 9, 2024
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6 changes: 3 additions & 3 deletions README.md
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# SvAnna - Structural Variant Annotation and Analysis

[![GitHub release](https://img.shields.io/github/release/TheJacksonLaboratory/SvAnna.svg)](https://github.com/TheJacksonLaboratory/SvAnna/releases)
[![Java CI with Maven](https://github.com/TheJacksonLaboratory/SvAnna/workflows/Java%20CI%20with%20Maven/badge.svg)](https://github.com/TheJacksonLaboratory/SvAnna/actions/workflows/maven.yml)
[![GitHub release](https://img.shields.io/github/release/monarch-initiative/SvAnna.svg)](https://github.com/monarch-initiative/SvAnna/releases)
[![Java CI with Maven](https://github.com/monarch-initiative/SvAnna/workflows/Java%20CI%20with%20Maven/badge.svg)](https://github.com/monarch-initiative/SvAnna/actions/workflows/maven.yml)
[![Documentation Status](https://readthedocs.org/projects/svanna/badge/?version=master)](https://svanna.readthedocs.io/en/master/?badge=master)

Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing.

Most users should download the latest SvAnna distribution ZIP file from
the [Releases page](https://github.com/TheJacksonLaboratory/SvAnna/releases).
the [Releases page](https://github.com/monarch-initiative/SvAnna/releases).

## Example use

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4 changes: 2 additions & 2 deletions docs/examples.rst
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Expand Up @@ -263,7 +263,7 @@ Command
.. _examples.vcf: https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/examples/example.vcf
.. _examples.vcf: https://github.com/monarch-initiative/SvAnna/blob/master/svanna-cli/src/examples/example.vcf
.. _Decoding NF1 Intragenic Copy-Number Variations: https://pubmed.ncbi.nlm.nih.gov/26189818
.. _The first case report of a large deletion of the BRCA1 gene in Croatia: https://pubmed.ncbi.nlm.nih.gov/29310340
.. _Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders: https://pubmed.ncbi.nlm.nih.gov/28347285
Expand All @@ -272,4 +272,4 @@ Command
.. _Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis: https://pubmed.ncbi.nlm.nih.gov/33265914
.. _Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease: https://pubmed.ncbi.nlm.nih.gov/20696945
.. _Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15: https://pubmed.ncbi.nlm.nih.gov/29621621
.. _run_examples.sh: https://github.com/TheJacksonLaboratory/SvAnna/blob/development/svanna-cli/src/examples/run_examples.sh
.. _run_examples.sh: https://github.com/monarch-initiative/SvAnna/blob/development/svanna-cli/src/examples/run_examples.sh
6 changes: 3 additions & 3 deletions docs/quickstart.rst
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Expand Up @@ -28,7 +28,7 @@ SvAnna is installed by running the following three steps.
1. Download SvAnna distribution ZIP
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Download and extract SvAnna distribution ZIP archive from `here <https://github.com/TheJacksonLaboratory/SvAnna/releases>`_.
Download and extract SvAnna distribution ZIP archive from `here <https://github.com/monarch-initiative/SvAnna/releases>`_.
Expand the *Assets* menu and download the ``svanna-cli-${project.version}-distribution.zip``. Choose the latest stable version,
or a release candidate (RC).

Expand Down Expand Up @@ -60,9 +60,9 @@ Prioritize structural variants in VCF file
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^

Let's annotate a toy VCF file containing eight SVs reported in the SvAnna manuscript.
First, let's download the VCF file from `here <https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/examples/example.vcf>`_::
First, let's download the VCF file from `here <https://github.com/monarch-initiative/SvAnna/blob/master/svanna-cli/src/examples/example.vcf>`_::

$ wget https://raw.githubusercontent.com/TheJacksonLaboratory/SvAnna/master/svanna-cli/src/examples/example.vcf
$ wget https://raw.githubusercontent.com/monarch-initiative/SvAnna/master/svanna-cli/src/examples/example.vcf

The variants were sourced from published clinical case reports and presence of each variant results in a Mendelian disease.

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2 changes: 1 addition & 1 deletion docs/running.rst
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Expand Up @@ -89,4 +89,4 @@ SvAnna configuration
See the next section to learn more about the SvAnna :ref:`rstoutputformats`,
and the :ref:`rstexamples` section to see how SvAnna prioritizes various SV classes.

.. _example.vcf: https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/examples/example.vcf
.. _example.vcf: https://github.com/monarch-initiative/SvAnna/blob/master/svanna-cli/src/examples/example.vcf
4 changes: 2 additions & 2 deletions docs/setup.rst
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Expand Up @@ -21,7 +21,7 @@ Prebuilt SvAnna executable
~~~~~~~~~~~~~~~~~~~~~~~~~~~

To download the executable SvAnna JAR file, go to the
`Releases section <https://github.com/TheJacksonLaboratory/SvAnna/releases>`_
`Releases section <https://github.com/monarch-initiative/SvAnna/releases>`_
on the SvAnna GitHub page and download the latest SvAnna ZIP archive.


Expand Down Expand Up @@ -52,7 +52,7 @@ are required for build.

Run the following commands to download SvAnna source code from GitHub repository and to build SvAnna JAR file::

$ git clone https://github.com/TheJacksonLaboratory/SvAnna
$ git clone https://github.com/monarch-initiative/SvAnna
$ cd SvAnna
$ ./mvnw package

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8 changes: 4 additions & 4 deletions docs/tutorial.rst
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Expand Up @@ -30,7 +30,7 @@ If you have a VCF file on hand that was called with a caller such as `pbsv <http
`sniffles <https://github.com/fritzsedlazeck/Sniffles>`_, or `SVIM <https://github.com/eldariont/svim>`_, it can be used instead or
you can add the 8 variants to the end of that file to simulate a "real-life" long-read seuqencing experiment.

The file with the 8 variants can be downloaded here: `svanna-cli/src/examples/example.vcf <https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/examples/example.vcf>`_.
The file with the 8 variants can be downloaded here: `svanna-cli/src/examples/example.vcf <https://github.com/monarch-initiative/SvAnna/blob/master/svanna-cli/src/examples/example.vcf>`_.

Running SvAnna in VCF-only mode
###############################
Expand Down Expand Up @@ -74,7 +74,7 @@ with disease, patient, and genetic information, enabling clinicians, biologists,
build more complete models of disease. See the `GA4GH documentation <https://phenopacket-schema.readthedocs.io/en/latest/basics.html>`_ for more information.

Importantly, to run SvAnna with a Phenopacket, the path of the VCF file needs to be recorded in the Phenopacket. This can
be done in a text editor but we recommend the `PhenopacketGenerator <https://github.com/TheJacksonLaboratory/PhenopacketGenerator>`_ for
be done in a text editor but we recommend the `PhenopacketGenerator <https://github.com/monarch-initiative/PhenopacketGenerator>`_ for
convenience -- enter the HPO terms and the path to the VCF file.

The following is a minimal Phenopacket (note this is version 1, we will add support for the v2 in near future). ::
Expand Down Expand Up @@ -117,7 +117,7 @@ To run this on your system, replace the path for the VCF file (``file:///***/***
have the VCF file at ``/home/myname/data/example.vcf``, the line should read ``"uri": "file:///home/myname/data/example.vcf"``.


This phenopacket file can be downloaded here: `svanna-cli/src/examples/example-phenopacket.json <https://github.com/TheJacksonLaboratory/SvAnna/blob/master/svanna-cli/src/examples/example-phenopacket.json>`_.
This phenopacket file can be downloaded here: `svanna-cli/src/examples/example-phenopacket.json <https://github.com/monarch-initiative/SvAnna/blob/master/svanna-cli/src/examples/example-phenopacket.json>`_.
Note however, that you will need to adjust the path to the VCF file as described just above.

This command will prioritize the SVs according to phenotypic relevance. We entered a single HPO term,
Expand Down Expand Up @@ -148,4 +148,4 @@ The deletion is visualized as follows.
:width: 800
:alt: VWF deletion

And that's it! If you encounter any problems, please create an issue on the SvAnna `tracker <https://github.com/TheJacksonLaboratory/SvAnna/issues>`_.
And that's it! If you encounter any problems, please create an issue on the SvAnna `tracker <https://github.com/monarch-initiative/SvAnna/issues>`_.
6 changes: 3 additions & 3 deletions pom.xml
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Expand Up @@ -62,9 +62,9 @@
</developers>

<scm>
<connection>scm:git:[email protected]:TheJacksonLaboratory/SvAnna.git</connection>
<developerConnection>scm:git:[email protected]:TheJacksonLaboratory/SvAnna.git</developerConnection>
<url>scm:git:[email protected]:TheJacksonLaboratory/SvAnna.git</url>
<connection>scm:git:[email protected]:monarch-initiative/SvAnna.git</connection>
<developerConnection>scm:git:[email protected]:monarch-initiative/SvAnna.git</developerConnection>
<url>scm:git:[email protected]:monarch-initiative/SvAnna.git</url>
<tag>v${project.version}</tag>
</scm>

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Expand Up @@ -526,7 +526,7 @@ a.svg:hover, a.svg:active {
<footer>
<div style="text-align: center">
<p>Developed by <em>Daniel Danis</em> and <em>Peter N Robinson</em> at <a href="https://www.jax.org">The Jackson Laboratory for Genomic Medicine</a>.</p>
<p>Problems, suggestions, or comments? Feel free to submit an issue to our <a href="https://github.com/TheJacksonLaboratory/SvAnna/issues">GitHub tracker</a>.</p>
<p>Problems, suggestions, or comments? Feel free to submit an issue to our <a href="https://github.com/monarch-initiative/SvAnna/issues">GitHub tracker</a>.</p>
<p>&#169; 2022 Daniel Danis, Peter N Robinson</p>
</div>
</footer>
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Expand Up @@ -425,7 +425,7 @@ public void toVariants_breakendVariant() {
}

/**
* Per issue <a href="https://github.com/TheJacksonLaboratory/SvAnna/issues/235">235</a>,
* Per issue <a href="https://github.com/monarch-initiative/SvAnna/issues/235">235</a>,
* HTSlib &gt;1.17 produces a gzipped file that cannot be read by common-compress's `GzipCompressorInputStream`.
* As a fix, the class was replaced by JRE's {@link java.util.zip.GZIPInputStream}.
* <p>
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