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10 changes: 10 additions & 0 deletions docs/SUMMARY.md
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# Table of contents

* [README](README.md)
* [Overview](overview.md)
* [Installation](installation.md)

## User Manuals

* [IVA General Usage](user-manuals/iva-general-usage.md)
* [Variant Browser](user-manuals/variant-browser.md)
* [Case Interpreter](user-manuals/case-interpreter.md)
* [Variant Analysis](user-manuals/variant-analysis.md)
* [Catalog Browser](user-manuals/catalog-browser.md)

101 changes: 101 additions & 0 deletions docs/installation.md
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# Installation

## Quick installation

### Bare installation

* Download the latest tar.gz package from [https://github.com/opencb/iva/releases](https://github.com/opencb/iva/releases).
* Extract the package `tar -xvf iva-[VERSION].tar.gz`
* Move the folder into the working directory of a static web server of your choice \(e.g. Apache\)

### Docker

IVA is also provided as a Docker image here [https://hub.docker.com/repository/docker/opencb/iva-app](https://hub.docker.com/repository/docker/opencb/iva-app).

Pull and lauch the container:
`docker run --rm --name iva -p 8000:80 opencb/iva-app`

Then visit:
`localhost:8000/iva`

## Installation for developers

### Clone

The repository of the project is here [https://github.com/opencb/iva](https://github.com/opencb/iva).

Default _**develop**_ branch can be downloaded by executing:

```text
$ git clone https://github.com/opencb/iva.git
Cloning into 'iva'...
remote: Enumerating objects: 126, done.
remote: Counting objects: 100% (126/126), done.
remote: Compressing objects: 100% (72/72), done.
remote: Total 10370 (delta 70), reused 85 (delta 38), pack-reused 10244
Receiving objects: 100% (10370/10370), 4.70 MiB | 61.00 KiB/s, done.
Resolving deltas: 100% (6064/6064), done.
```

Latest stable release at _**master**_ branch can be downloaded by executing:

```text
$ git clone -b master https://github.com/opencb/iva.git
Cloning into 'iva'...
remote: Counting objects: 624, done.
remote: Total 624 (delta 0), reused 0 (delta 0), pack-reused 624
Receiving objects: 100% (624/624), 139.37 KiB | 191.00 KiB/s, done.
Resolving deltas: 100% (356/356), done.
Checking connectivity... done.
```

After this, in both cases, you **must** execute the following command to fetch the JSorolla submodule \(only the first time\):

```text
git submodule update --init
```

Go to `./lib/jsorolla` and checkout to _**develop**_ branch of Jsorolla by

```text
cd lib/jsorolla
git checkout develop
npm run install
```

### Run

To run IVA in dev mode \(hot reload for CSS files and hot restart, aka "live reloading", for JS scripts\), run

`npm run serve`.

### Build

To produce the built version, just run

`npm run build`.

### Test

We use [Cypress.io](https://www.cypress.io/) as testing framework.

Having the project running through the command `npm run serve`, you can run the **interactive E2E** test suite by running the command

```text
npm run e2e
```

or the **headless E2E** test suite \(no browser window\).
This mode comes with an HTML report \(generated in `./report`\).

```text
npm run e2e-report
```

in a Windows environment, just add the suffix `-win`

```text
npm run e2e-win
npm run e2e-report-win
```

26 changes: 26 additions & 0 deletions docs/overview.md
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# Overview

Interactive Variant Analysis \(IVA\) is a web application for filtering, analysis and interpretation of population-scale genotype data. This interactive tool allows the identification of genes affected by deleterious variants that segregate along family pedigrees, case-control or sporadic samples.

IVA has been developed as part of the [OpenCGA](http://docs.opencb.org/display/opencga/Welcome+to+OpenCGA) project, making it easy to work with clinical and variant information stored in a Catalog and Variant storage instance.

## Main Features

* **Authenticated** and **secure** platform to query and visualise data
* Fully **customizable platform** and extensible though **pluggings**
* Multiple tools and analysis available:
* Advanced **variant filtering**: filter your variants
* **Genome browser**
* **Clinical analysis**
* **Aggregation analysis**
* Allow to load VCF files and samples together with clinical data
* High-performance and scalable VCF and gVCF indexing
* VCF normalization and variant annotation
* Clinical interpretation analysis of samples and families

### Contact

* Ignacio Medina

⚠ IVA is developed and maintained by the [University of Cambridge](https://www.cam.ac.uk/) and [Genomics England](https://www.genomicsengland.co.uk/). It is freely available at [**https://github.com/opencb/iv**](https://github.com/opencb/iva)

6 changes: 6 additions & 0 deletions docs/user-manuals/case-interpreter.md
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# Case Interpreter

The Case Interpretation is the most relevant of the IVA’s components for a Clinical Scientist. The cases created and its associated data can be found in the Case Portal within the Case Interpretation tab. You can access the space from the top-tab or from the central display of the screen _\( as highlighted in the picture with red arrows\)._

![](../.gitbook/assets/image%20%287%29.png)

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# Catalog Browser

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# IVA General Usage

{% hint style="info" %}
_**NOTE**_: _You can access our public IVA installation at the University of Cambridge at_ [_http://bioinfo.hpc.cam.ac.uk/web-apps/iva-prod/\#home_](http://bioinfo.hpc.cam.ac.uk/web-apps/iva-prod/#home)_._ The current version of IVA for the installation is_**`V2.0.0-RD`**_
{% endhint %}

## Login​

Navigate to the IVA main page. For example, if you want to access the University installation, go this [link](http://bioinfo.hpc.cam.ac.uk/web-apps/iva-prod/#home) , find the **Login tab** in the top right of the screen and introduce the credentials: user: _demouser_, password: _demouser._

![IVA's Login page](../.gitbook/assets/image%20%282%29.png)

If the credentials provided are correct, a "Welcome Message" will be displayed and the application will start to fetch the studies populated into the correspondent OpenCGA installation you are accessing to.

![](../.gitbook/assets/image%20%285%29.png)

## Project and Studies

### **Project and Study organisation**

The project/study organisation is key in order to optimise data usability in OpenCGA, and thus in IVA.

Projects provide physical separation of data into different database tables.
Studies provide logical separation of data within a Project. For an efficient project/study organisation, see next recommendations:

* Data from different genome assemblies should keep in different projects \(e.g you should create a project for data from GRCh37 and other for data from GRCh38\)
* It is appropriate to store data in different projects when there is no foreseeable need to process them jointly.
* It is recommended to split your data in studies corresponding to different independent datasets that may be used together in some analysis, with the aim of having homogeneous datasets for each study.

![](../.gitbook/assets/image%20%286%29.png)

## Explore the different components of IVA

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# Variant Analysis

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# Variant Browser

## Overview

The Variant browser allows you to view and filter variants for your chosen study using multiple parameters, which can be found in the left-hand menu. The filters available are:

### Filters <a id="IVAuserguide-Applyingfilters"></a>

### Applying filters <a id="IVAuserguide-Applyingfilters"></a>

* **Studies**
* For studies on the within the same project \(RD38 & CG8\) you can apply AND/OR logic to filter for variants present in both studies or either one of the studies. Select the logic and tick the appropriate box fir your study of choice
* **Genomic**
* Chromosomal location \(by genomic coordinate\)
* Feature IDs \(genes, SNPs, transcripts\)
* Gene disease panels \(genes included in the chosen [PanelApp ](https://panelapp.genomicsengland.co.uk/)panels\)
* Biotype \(gene or transcript type\)
* Variant type - SNV \(single nucleotide variant\), MNV \(multiple nucleotide variant\), CNV \(copy number variant\), SV \(structural variant\) or INDEL \(insertion/deletion\)
* **Population frequency**
* Population frequency as calculated overall or by population group in the 1000 Genomes and gnomAD databases
* **Consequence type**
* Consequence type SO \(Sequence ontology\) terms. You can filter for all Loss-of-Function terms here
* **Deleteriousness**
* Deleteriousness of variant using prediction tools SIFT, Polyphen and CADD \(NB that CADD is only available in GRCh37 studies\)
* **Conservation**
* Conservation score as calculated by PhyloP, PhastCons and Gerp.
* **Gene ontology**
* Gene ontology terms describing gene function
* **Phenotype-disease**
* HPO \(human phenotype ontology\) accession IDs
* ClinVar accession IDs
* Full-text search on HPO, ClinVar, protein domains or keywords, and some OMIM and Orphanet IDs

Once you have defined your filters, click **Search** to show the resulting variants in table format, as in the screenshot below. \(Summary format is not yet available.\)

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