Led by David Haussler (UCSC) and Richard Durbin (Sanger Institute), the Data Working Group (DWG) of the Global Alliance brings together the leading Genome Institutes and Centers with IT industry leaders to create global standards and tools for the secure, privacy respecting and interoperable sharing of Genomic data.

More at http://ga4gh.org/#/

Address of the bookmark: http://ga4gh.org/#/

Tutorial https://github.com/andyrimmer/Platypus/blob/master/misc/README.txt

Address of the bookmark: http://www.well.ox.ac.uk/platypus

Address of the bookmark: https://github.com/yjx1217/LRSDAY

In addition to the knowledge of the human genome, all these genomes, widely sampled across mammals, can be used to research how particular organisms respond to different conditions. Some otters, for example, have a thick, water-resistant shell, and some rodents, but not all, have adapted to hibernation. These animal traits will help us to understand human traits, such as metabolic diseases.

With climate change and more animal ecosystems being threatened by human activity, the protection of endangered species is becoming increasingly important. Scientists have historically researched several people in various populations of a species to understand the genetic variation that occurs in that species. This is important for understanding how particular species can be protected. In this study, animals on the Red List of Endangered Species of the International Union for Conservation of Nature had fewer differences in their genomes, which is consistent with their endangered status.

Ref @ A comparative genomics multitool for scientific discovery and conservation https://www.nature.com/articles/s41586-020-2876-6

 Data at http://zoonomiaproject.org/

Address of the bookmark: https://github.com/sanger-pathogens/ariba/wiki/Task%3A-getref

So, What Is Data Science?
At its core, data science is the interdisciplinary field that extracts knowledge and insights from data using programming, statistics, and domain expertise. In bioinformatics, data science enables us to turn gigabytes of sequence data into biological meaning.

Imagine trying to understand gene regulation in cancer by analyzing thousands of RNA-seq samples, or predicting antibiotic resistance from bacterial genomes—these challenges are not solvable through wet lab experiments alone. They require data-driven thinking.

Data Science Meets Bioinformatics
Bioinformatics is inherently a data science domain. From genomics to systems biology, every field in modern biology relies on data science techniques to:

Clean and process massive datasets

Discover patterns in high-dimensional data

Build predictive models (e.g., for disease classification)

Visualize complex biological networks and trends

Integrate diverse data types (e.g., transcriptomic + epigenomic data)

The Bioinformatics Toolkit
Here’s what data science typically looks like in bioinformatics:

Task Data Science Role
Sequence alignment Efficient algorithms, indexing, parallel processing
Gene expression analysis Statistical modeling (e.g., DESeq2, limma)
Variant calling Data filtering, probabilistic models
Clustering of cells in single-cell data Unsupervised learning
Protein structure prediction Deep learning models (e.g., AlphaFold)
Metagenomics Data integration, classification, dimensionality reduction

Common tools include Python, R, Bioconductor, scikit-learn, Pandas, Seurat, and TensorFlow—often working together in reproducible workflows.

It's Not Just About Coding
A common misconception is that bioinformatics is just programming or scripting. But being a data scientist in bioinformatics also means:

Understanding experimental design

Asking biologically meaningful questions

Choosing the right statistical or machine learning models

Communicating findings effectively (e.g., plots, dashboards, papers)

In other words, data science in bioinformatics is where biology, statistics, and computer science converge.

Why It Matters
The real power of data science in bioinformatics is its ability to scale discovery.

Instead of studying one gene, we can study thousands.

Instead of analyzing one species, we can explore entire ecosystems.

Instead of waiting months for lab results, we can generate hypotheses in days.

From personalized medicine and cancer diagnostics to agricultural genomics and pandemic surveillance, data science is at the heart of the bioinformatics revolution.

Final Thoughts
If you’re a biologist who’s curious about code, or a data enthusiast fascinated by life sciences, bioinformatics is your playground—and data science is your toolkit.

In bioinformatics, data science isn’t just useful. It’s essential.

Use the Terminal or an Anaconda Prompt for the following steps.

1. To create an environment:

   conda create --name myenv
   

   NOTE: Replace myenv with the environment name.

2. When conda asks you to proceed, type y:

   proceed ([y]/n)?
   

This creates the myenv environment in /envs/. This environment uses the same version of Python that you are currently using, because you did not specify a version.

To create an environment with a specific version of Python:

conda create -n myenv python=3.4

To create an environment with a specific package:

conda create -n myenv scipy

OR:

conda create -n myenv python
conda install -n myenv scipy

To create an environment with a specific version of a package:

conda create -n myenv scipy=0.15.0

OR:

conda create -n myenv python
conda install -n myenv scipy=0.15.0

To create an environment with a specific version of Python and multiple packages:

conda create -n myenv python=3.4 scipy=0.15.0 astroid babel

TIP: Install all the programs that you want in this environment at the same time. Installing 1 program at a time can lead to dependency conflicts.

To automatically install pip or another program every time a new environment is created, add the default programs to the create_default_packages section of your .condarc configuration file. The default packages are installed every time you create a new environment. If you do not want the default packages installed in a particular environment, use the --no-default-packages flag:

conda create --no-default-packages -n myenv python

TIP: You can add much more to the conda create command. For details, run conda create --help.

➜ redundans git:(master) ✗ conda create --name py27 python=2.7
Solving environment: done

==> WARNING: A newer version of conda exists. <==
current version: 4.5.0
latest version: 4.5.2

Please update conda by running

$ conda update -n base conda

## Package Plan ##

environment location: /home/urbe/anaconda3/envs/py27

added / updated specs:
- python=2.7

The following packages will be downloaded:

package | build
---------------------------|-----------------
wheel-0.31.0 | py27_0 61 KB
python-2.7.15 | h1571d57_0 12.1 MB
certifi-2018.4.16 | py27_0 142 KB
sqlite-3.23.1 | he433501_0 1.5 MB
setuptools-39.1.0 | py27_0 582 KB
openssl-1.0.2o | h20670df_0 3.4 MB
pip-10.0.1 | py27_0 1.7 MB
ca-certificates-2018.03.07 | 0 124 KB
------------------------------------------------------------
Total: 19.6 MB

The following NEW packages will be INSTALLED:

ca-certificates: 2018.03.07-0
certifi: 2018.4.16-py27_0
libedit: 3.1-heed3624_0
libffi: 3.2.1-hd88cf55_4
libgcc-ng: 7.2.0-hdf63c60_3
libstdcxx-ng: 7.2.0-hdf63c60_3
ncurses: 6.0-h9df7e31_2
openssl: 1.0.2o-h20670df_0
pip: 10.0.1-py27_0
python: 2.7.15-h1571d57_0
readline: 7.0-ha6073c6_4
setuptools: 39.1.0-py27_0
sqlite: 3.23.1-he433501_0
tk: 8.6.7-hc745277_3
wheel: 0.31.0-py27_0
zlib: 1.2.11-ha838bed_2

Proceed ([y]/n)? y

Downloading and Extracting Packages
wheel 0.31.0: #################################################################################################################################################################################################### | 100%
python 2.7.15: ################################################################################################################################################################################################### | 100%
certifi 2018.4.16: ############################################################################################################################################################################################### | 100%
sqlite 3.23.1: ################################################################################################################################################################################################### | 100%
setuptools 39.1.0: ############################################################################################################################################################################################### | 100%
openssl 1.0.2o: ################################################################################################################################################################################################## | 100%
pip 10.0.1: ###################################################################################################################################################################################################### | 100%
ca-certificates 2018.03.07: ###################################################################################################################################################################################### | 100%
Preparing transaction: done
Verifying transaction: done
Executing transaction: done
#
# To activate this environment, use:
# > source activate py27
#
# To deactivate an active environment, use:
# > source deactivate
#

➜ redundans git:(master) ✗ source activate py27

• While there are many other tree drawing programs, slacTree was originally written in 2009 to fill a need for producing publication quality figures of circular trees with more than 1000 taxa with custom annotations
• Because it is a single Perl script with very few dependencies, it is easy to run, and easy to further customize
• SVG is used because it is a scalable format allowing for very small representations of entire trees or highly magnified regions with unlimited resolution
• Circular and radial trees are more compact than linear representations

Address of the bookmark: https://github.com/mccrowjp/slacTree

Address of the bookmark: http://samstat.sourceforge.net/