Welcome to the 10 Minutes to Isabl guide! This tutorial will walk you through installation, meta data registration, data import, and automated data processing.

Intro to Isabl

Checkout the documentation home page for an intro to Isabl.

Prerequisites

• ​Docker Compose for building and running the application.

Demo Setup

Let's start by clone the demo:

git clone https://github.com/isabl-io/demo.git --recurse-submodules && cd demo

Next, source a simple initiation profile:

source .demo-profile

chmod -R u+w demo && rm -rf demo

docker volume rm isabl_demo_local_postgres_data

Installation

Build and run the application (this might take a few minutes):

demo-compose build

Now we can run the application in the background:

demo-compose up -d

Visit http://localhost:8000/ and log in with username=admin password=admin!

Create Project

Creating a project in Isabl is as simple as adding a title. You can also specify optional fields:

Configure Isabl CLI

We need to let isabl-cli know where can the API be reached, and what CLI settings we should use (if you are using demo-compose, these variables are already set):

# point to your API URL
export ISABL_API_URL=http://localhost:8000/api/v1/
​
# set environment variable for demo client
export ISABL_CLIENT_ID="demo-cli-client"

Now we can create a client for isabl-cli:

# create and update the client object
demo-cli python3.6 ./assets/metadata/create_cli_client.py
​
# check the file used to create the client
cat ./assets/metadata/create_cli_client.py

Register Samples

Before we create samples, let's use isabl-cli to add choices for Center, Disease, Sequencing Technique, and Data Generating Platform:

demo-cli python3.6 ./assets/metadata/create_choices.py

We will use Excel submissions to register samples through the web interface. To do so, the demo project comes with a pre-filled metadata form available at:

open assets/metadata/demo_submission.xlsm

Now let's proceed to submit this excel form. First open the directory:

open assets/metadata

And drag the demo_submission.xlsm file into the submit samples form:

We can also review metadata at the command line:

isabl get-metadata experiments --fx

For this particular demo, we wanted to create a sample tree that showcased the flexibility of Isabl's data model. Our demo individual has two samples, one normal and one tumor. The tumor sample is further divided into two biological replicates (or aliquots), with two experiments conducted on the second aliquot:

RESTful API

Although not required for this tutorial, you are welcome to checkout the RESTful API documentation at: http://localhost:8000/api/v1/ or https://isabl.io/redoc.

Import Reference Data

Given that isabl-cli will move our test data, let's copy original assets into a staging directory:

mkdir -p assets/staging && cp -r assets/data/* assets/staging

Now let's import the genome:

isabl import-reference-genome \
    --assembly GRCh37 \
    --genome-path assets/staging/reference/reference.fasta

We can also import BED files for our demo Sequencing Technique:

isabl import-bedfiles \
    --technique DEMO_TECHNIQUE \
    --targets-path assets/staging/bed/targets.bed \
    --baits-path assets/staging/bed/baits.bed \
    --assembly GRCh37 \
    --species HUMAN \
    --description "Demo BED files"

Check that import was successful:

isabl get-bed DEMO_TECHNIQUE  # retrieve BED file
isabl get-reference GRCh37    # retrieve reference genome

By means of the --data-id flag, the command get-reference also allows you to retrieve the indexes generated during import. To get a list of available files per assembly run:

isabl get-reference GRCh37 --resources

Import Experimental Data

Next step is to import data for the samples we just created:

isabl import-data \
    -di ./assets/staging            `# provide data location ` \
    -id identifier                  `# match files using experiment id` \
    -fi identifier.contains "demo"  `# filter samples to be imported `

Retrieve imported data for the normal to see how directories are created:

isabl get-data -fi sample.identifier "demo normal"

The front end will also reflect that data has been imported.

Writing Applications

Isabl is a language agnostic platform and can deploy any pipeline. To get started, we will use some applications from isabl-io/apps. Precisely we will run alignment, quality control, and variant calling. Applications were previously registered in client object. Once registered, they are available in the client:

isabl apps-grch37

First we'll run alignment (pass --commit to deploy):

isabl apps-grch37           `# apps are grouped by assembly ` \
    bwa-mem-0.7.17.r1188    `# run bwa-mem version 0.7.17.r1188 ` \
    -fi tags.contains data  `# filter using tags, feel free to try others `

Now we can retrieve bams from the command line:

isabl get-bams -fi sample.individual.identifier "demo individual"

We can also visualize aligned bams online:

Auto-merge Analyses

Let's get some stats for our experiments with a quality control application:

isabl apps-grch37 qc-data-0.1.0 -fi identifier.icontains demo --commit

This quality control application has defined logic to merge results at a project and individual level. Upon completion of analyses execution, Isabl automatically runs the auto-merge logic:

Isabl-web can render multiple types of results, in this case we will check at HTML reports. Results for our qc-data application are available at an experiment, individual, and project level. In this example we are looking at the project-level auto-merge analysis:

Multi-experiment Analyses

Up until now we've run applications that are linked to one experiment only. However, analyses can be related to any number of target and reference experiments. For example this implementation of Strelka uses tumor-normal pairs. Before you can run this command you will need to retrieve the system id of your experiments, let's try:

isabl get-metadata experiments -f system_id

Now insert those identifiers in the following command:

isabl apps-grch37 strelka-2.9.1 \
    --pairs {TUMOR 1 ID} {NORMAL ID}  `# replace tumor 1 system id and normal system id` \
    --pairs {TUMOR 2 ID} {NORMAL ID}  `# replace tumor 2 system id and normal system id` \
    --pairs {TUMOR 3 ID} {NORMAL ID}  `# replace tumor 3 system id and normal system id`

You can retrieve registered results for the analysis, for instance the indels VCF:

isabl get-results -fi name STRELKA --result-key indels

# app-primary-key can be retrieved from the frontend
isabl get-results --app-results {app-primary-key}
​
# when writing this tutorial, the app key for strelka was 5
isabl get-results --app-results 5

Furthermore, you can get paths for any instance in the database using get-paths:

isabl get-outdirs -fi name STRELKA

Lastly, lets check the indels VCFs through the web portal:

Software Development Kit

To finalize the tutorial, we'll use Isabl as an SDK with ipython:

# we'll access ipython using the cli container
demo-cli ipython

Then lets check the output directories of Strelka:

import isabl_cli as ii
​
# retrieve analyses from API using filters
analyses = ii.get_analyses(name="STRELKA")
​
# list the strelka ouput directories
for i in analyses:
    !ls {i.storage_url}/strelka

The analysis objects are Munch, in other words they are dot-dicts (like javascript):

analysis = analyses[0]
​
# get the target experiment or tumor
target = analysis.targets[0]
​
# print the parent sample class
print(target.sample.category)
​
# see available fields
print(target.keys())

Wrap up and Next Steps

Learn about CLI advanced configuration to customize functionality:

Learn about writing applications:

Ready for production? learn more about deployment: