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Release/v2.2.9
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creisle authored Dec 3, 2020
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20 changes: 10 additions & 10 deletions README.md
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Expand Up @@ -14,11 +14,11 @@
The general [MAVIS](http://mavis.bcgsc.ca) pipeline consists of six main stages

- convert
- [cluster](http://mavis.bcgsc.ca/docs/latest/mavis.cluster.html#mavis-cluster)
- [validate](http://mavis.bcgsc.ca/docs/latest/mavis.validate.html#mavis-validate)
- [annotate](http://mavis.bcgsc.ca/docs/latest/mavis.annotate.html#mavis-annotate)
- [pairing](http://mavis.bcgsc.ca/docs/latest/mavis.pairing.html#mavis-pairing)
- [summary](http://mavis.bcgsc.ca/docs/latest/mavis.summary.html#mavis-summary)
- [cluster](https://mavis.readthedocs.io/en/latest/package/mavis/cluster)
- [validate](https://mavis.readthedocs.io/en/latest/package/mavis/validate)
- [annotate](https://mavis.readthedocs.io/en/latest/package/mavis/annotate)
- [pairing](https://mavis.readthedocs.io/en/latest/package/mavis/pairing)
- [summary](https://mavis.readthedocs.io/en/latest/package/mavis/summary)

## Getting Help

Expand All @@ -41,12 +41,12 @@ a github issue to our [github page](https://github.com/bcgsc/mavis/issues) or co

## Install Instructions

There are 3 major steps to setting up and installing [MAVIS](http://mavis.bcgsc.ca). If you are a developer contributing to mavis, please see the [instructions for developers page](http://mavis.bcgsc.ca/docs/latest/development.html) instead
There are 3 major steps to setting up and installing [MAVIS](http://mavis.bcgsc.ca). If you are a developer contributing to mavis, please see the [instructions for developers page](https://mavis.readthedocs.io/en/latest/development) instead

### 1. Install Aligner

In addition to the python package dependencies, [MAVIS](http://mavis.bcgsc.ca) also requires an aligner to be installed.
Currently the only aligners supported are [blat](http://mavis.bcgsc.ca/docs/latest/glossary.html#term-blat) and [bwa mem](http://mavis.bcgsc.ca/docs/latest/glossary.html#term-bwa).
Currently the only aligners supported are [blat](https://mavis.readthedocs.io/en/latest/glossary/#blat) and [bwa mem](https://mavis.readthedocs.io/en/latest/glossary/#bwa).
For MAVIS to run successfully the aligner must be installed and accessible on the path.
If you have a non-standard install you may find it useful to edit the PATH environment variable. For example

Expand All @@ -55,7 +55,7 @@ export PATH=/path/to/directory/containing/blat/binary:$PATH
```

[blat](http://mavis.bcgsc.ca/docs/latest/glossary.html#term-blat) is the default aligner. To configure MAVIS to use [bwa mem](http://mavis.bcgsc.ca/docs/latest/glossary.html#term-bwa) as a default instead, use the
[MAVIS environment variables](http://mavis.bcgsc.ca/configuration.html#environment-variables). Make sure to specify BOTH of the variables below to change the default aligner.
[MAVIS environment variables](https://mavis.readthedocs.io/en/latest/configuration/settings/). Make sure to specify BOTH of the variables below to change the default aligner.

``` bash
export MAVIS_ALIGNER='bwa mem'
Expand Down Expand Up @@ -108,7 +108,7 @@ This will install mavis and its python dependencies into eggs inside the cloned

### 3. Build or Download Reference Files

After [MAVIS](http://mavis.bcgsc.ca) is installed the [reference files](http://mavis.bcgsc.ca/docs/latest/mavis_input.html#reference-input-files) must be generated (or downloaded) before it can be run. A simple bash script to download the hg19 reference files and generate a MAVIS environment file is provided under mavis/tools for convenience.
After [MAVIS](http://mavis.bcgsc.ca) is installed the [reference files](https://mavis.readthedocs.io/en/latest/inputs/reference) must be generated (or downloaded) before it can be run. A simple bash script to download the hg19 reference files and generate a MAVIS environment file is provided under mavis/tools for convenience.

``` bash
cd /path/to/where/you/want/to/put/the/files
Expand All @@ -118,7 +118,7 @@ source reference_inputs/hg19_env.sh
```

Once the above 3 steps are complete [MAVIS](http://mavis.bcgsc.ca) is ready to be run.
See the MAVIS [tutorial](http://mavis.bcgsc.ca/docs/latest/pipeline.html#mavis-mini-tutorial) to learn about running MAVIS.
See the MAVIS [tutorial](https://mavis.readthedocs.io/en/latest/tutorials/mini) to learn about running MAVIS.


## Citation
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44 changes: 22 additions & 22 deletions docs/background/theory.md
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Expand Up @@ -25,7 +25,7 @@ which are adjacent in the mutant genome
There are many ways that single reads or paired-end reads can act as
support for an SV call.

![](../../images/read_evidence.svg)
![](../images/read_evidence.svg)

In the figure above the red rectangle represents a deletion structural
variant. The arrows are types of single or paired-end reads supporting
Expand Down Expand Up @@ -58,7 +58,7 @@ For a deletion, we expect the flanking reads to be in the normal
orientation but that the fragment size should be abnormal (for large
deletions).

![](../../images/read_pairs_deletion.svg)
![](../images/read_pairs_deletion.svg)

Flanking read pair evidence for a deletion event. the read pairs will
have a larger than expected fragment size when mapped to the reference
Expand All @@ -74,7 +74,7 @@ strand.

#### Insertion

![](../../images/read_pairs_insertion.svg)
![](../images/read_pairs_insertion.svg)

Flanking read pair evidence for an insertion event. The read pairs
will have a smaller than expected fragment size when mapped to the
Expand All @@ -90,7 +90,7 @@ strand.

#### Duplication

![](../../images/read_pairs_duplication.svg)
![](../images/read_pairs_duplication.svg)

Flanking read pair evidence for a tandem duplication event. The read
pairs will have an abnormal orientation but still the same strands as
Expand All @@ -102,29 +102,29 @@ orientation.

#### Inversion

![](../../images/read_pairs_inversion_LL.svg)
![](../images/read_pairs_inversion_LL.svg)

Flanking read pair evidence for an inversion. Both breakpoints have
left orientation.


![](../../images/read_pairs_inversion_RR.svg)
![](../images/read_pairs_inversion_RR.svg)

Flanking read pair evidence for an inversion. Both breakpoints have
right orientation.


#### Translocation

![](../../images/read_pairs_translocation_LR.svg)
![](../images/read_pairs_translocation_LR.svg)

Flanking read pair evidence for a translocation. (B1) the first
breakpoint with a left orientation. (B2) the second breakpoint with a
right
orientation.


![](../../images/read_pairs_translocation_RL.svg)
![](../images/read_pairs_translocation_RL.svg)

Flanking read pair evidence for a translocation. (B1) the first
breakpoint with a right orientation. (B2) the second breakpoint with a
Expand All @@ -134,14 +134,14 @@ orientation.

#### Inverted Translocation

![](../../images/read_pairs_translocated_inversion_LL.svg)
![](../images/read_pairs_translocated_inversion_LL.svg)

Flanking read pair evidence for an inverted translocation. Both
breakpoints have left
orientation.


![](../../images/read_pairs_translocated_inversion_RR.svg)
![](../images/read_pairs_translocated_inversion_RR.svg)

Flanking read pair evidence for an inverted translocation. Both
breakpoints have right
Expand All @@ -158,7 +158,7 @@ be used as compatible flanking evidence for an insertion (in the same
region) and similarly flanking pairs which support an insertion may be
compatible flanking evidence for a duplication

![](../../images/compatible_flanking_pairs.svg)
![](../images/compatible_flanking_pairs.svg)

The event depicted above may be called as either a duplication or an
insertion (depending on the input call). If the even were called as a
Expand All @@ -172,7 +172,7 @@ apply.

### Calculating the Evidence Window

![](../../images/read_pair_definitions.svg)
![](../images/read_pair_definitions.svg)

Basic Terms used in describing read pairs are shown above: fragment
size: the distance between the pair; read length: the length of the
Expand Down Expand Up @@ -217,7 +217,7 @@ stdev = math.sqrt(sum(X) / len(X))
This gives us an idea of when to judge an fragment size as abnormal and
where we expect our normal read pairs fragment sizes to fall.

![](../../images/fragment_sizes_histogram.svg)
![](../images/fragment_sizes_histogram.svg)

Distribution of fragment sizes (absolute values) of proper read pairs.
The black curve representings the fit for a normal distribution using
Expand Down Expand Up @@ -265,7 +265,7 @@ evidence window. We use the
limit of how large the range can be. This is further refined taking into
account the range spanned by the [flanking read pair](../../glossary/#flanking-read-pair) evidence and the position of the opposing breakpoint.

![call by flanking reads](../../images/call_breakpoint_by_flanking_reads.svg)
![call by flanking reads](../images/call_breakpoint_by_flanking_reads.svg)

Calculation of the left-oriented breakpoint by flanking reads. Reads
mapped to the breakpoint are shown in grey. The read on the right (black
Expand All @@ -277,7 +277,7 @@ interval.

### Determining Flanking support

![flanking support](../../images/flanking_pairs_fragment_sizes_deletion.svg)
![flanking support](../images/flanking_pairs_fragment_sizes_deletion.svg)

After a breakpoint has been called we can narrow the interval of
expected fragment sizes using the size of the event. (Left) The colored
Expand All @@ -297,7 +297,7 @@ The following decision tree is used in classifying events based on their
breakpoints. Only valid combinations have been shown. see
`mavis.breakpoint.BreakpointPair.classify`

![classifying](../../images/classification_tree.svg)
![classifying](../images/classification_tree.svg)

Classification Decision Tree. The above diagram details the decsion
logic for classifying events based on the orientation, strand and
Expand Down Expand Up @@ -344,7 +344,7 @@ breakpoint (useful in the case of a potential promoter swap); what genes
encompassed between the breakpoints (for example in a deletion event the
genes that would be deleted).

![gene annotations](../../images/annotations_summary.svg)
![gene annotations](../images/annotations_summary.svg)

Gene level annotations at each breakpoint. Note: genes which fall
between a breakpoint pair, encompassed genes, will not be present for
Expand All @@ -368,7 +368,7 @@ a splice-site, it is not clear what the processed fusion transcript may
be. MAVIS will calculate all possibilities according to the following
model.

![splicing pattern](../../images/splicing_pattern_default.svg)
![splicing pattern](../images/splicing_pattern_default.svg)

The default splicing pattern is a list of pairs of donor and acceptor
splice sites
Expand All @@ -377,14 +377,14 @@ For a given list of non-abrogated splice sites (listed 5' to 3' on the
strand of the transcript) donor splice sites are paired with all
following as seen below

![multiple donors](../../images/splicing_pattern_multiple_donors.svg)
![multiple donors](../images/splicing_pattern_multiple_donors.svg)

Multiple abrogated acceptors sites. As one can see above this
situation will result in 3 different splicing patterns depending on
which donor is paired with the 2nd acceptor
site

![multiple acceptors](../../images/splicing_pattern_multiple_acceptors.svg)
![multiple acceptors](../images/splicing_pattern_multiple_acceptors.svg)

Multiple abrogated donor sites. As one can see above this situation
will result in 3 different splicing patterns depending on which acceptor
Expand All @@ -410,7 +410,7 @@ different splicing patterns:
(`mavis.constants.SPLICE_TYPE.COMPLEX`{.interpreted-text
role="attr"})

![Splicing scenarios](../../images/splicing_model.svg)
![Splicing scenarios](../images/splicing_model.svg)



Expand All @@ -431,7 +431,7 @@ rise to the following basic cases.
the breakpoint.


![exonic splicing](../../images/breakpoint_prediction_exonic.svg)
![exonic splicing](../images/breakpoint_prediction_exonic.svg)

(A-D) The breakpoint lands in an exon and the five prime portion of
the transcript is retained. (A) The original splicing pattern showing
Expand Down
4 changes: 2 additions & 2 deletions docs/configuration/performance.md
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Expand Up @@ -12,7 +12,7 @@ cpu requirements depending on what the user is trying to analyze. See

## Validation Resources

![](../../images/colo829_tumour_validation_resource_req.png)
![](../images/colo829_tumour_validation_resource_req.png)

Resource Requirements (MAVIS 1.8.0) for each validation job of the
COLO829 tumour genome. The BAM file for the tumour genome is 127GB.
Expand All @@ -29,7 +29,7 @@ regards to time elapsed. However the memory requirements remained more
constant which is expected since, unlike validation, anntotation does
not read more data in for more events.

![](../../images/colo829_tumour_annotation_resource_req.png)
![](../images/colo829_tumour_annotation_resource_req.png)

Resource Requirements (MAVIS 1.8.0) for each annotation job of the
COLO829 tumour genome. The events which passed validation (see above)
Expand Down
4 changes: 2 additions & 2 deletions docs/configuration/pipeline.md
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Expand Up @@ -6,7 +6,7 @@ The setup step of MAVIS is set up to use a job scheduler on a
compute cluster. will generate submission scripts and a wrapper bash
script for the user to execute on their cluster head node.

![](../../images/pipeline_options.svg)
![](../images/pipeline_options.svg)

The MAVIS pipeline is highly configurable. Some pipeline steps
(cluster, validate) are optional and can be automatically skipped. The
Expand Down Expand Up @@ -36,7 +36,7 @@ mavis schedule -o /path/to/output_dir --submit

This will submit a series of jobs with dependencies.

![](../../images/pipeline_dependency_graph.svg)
![](../images/pipeline_dependency_graph.svg)

Dependency graph of MAVIS jobs for the standard pipeline setup. The
notation on the arrows indicates the SLURM setting on the job to add the
Expand Down
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