Address of the bookmark: https://bioinformaticsworkbook.org/dataAnalysis/GenomeAssembly/GeneticMaps/creating-genetic-maps.html

1. Heatmaps: Exploring Patterns in High-Dimensional Data

Heatmaps are a go-to visualization for representing high-dimensional datasets, such as gene expression or metabolomics data. They use color gradients to display data intensity, making patterns and clusters easily detectable.

• Applications: Gene expression analysis, pathway enrichment, methylation studies.

• Tools: Seaborn (Python), ComplexHeatmap (R), Morpheus (web-based).

Tip: Add dendrograms to visualize clustering of rows and columns for hierarchical relationships.

2. Volcano Plots: Highlighting Differential Features

Volcano plots are indispensable for identifying significantly differentially expressed genes or proteins. They plot the log2 fold change against –log10(p-value), making it easy to spot statistically significant changes.

• Applications: RNA-seq, proteomics, and metabolomics.

• Tools: ggplot2 (R), EnhancedVolcano (R), Plotly (Python).

Tip: Use color to highlight significant features and label key genes or proteins.

3. PCA Plots: Reducing Complexity with Principal Component Analysis

Principal Component Analysis (PCA) plots are used to reduce dimensionality and uncover trends or clusters in data. They provide insights into sample variability and grouping.

• Applications: Transcriptomics, metabolomics, microbiome studies.

• Tools: scikit-learn + Matplotlib (Python), prcomp (R), ClustVis (web-based).

Tip: Annotate clusters with metadata to enhance interpretability.

4. Manhattan Plots: Genome-Wide Association Studies

Manhattan plots visualize p-values across the genome, making it easy to identify significant associations in genome-wide studies. They resemble city skylines, with the highest peaks indicating loci of interest.

• Applications: GWAS, QTL mapping.

• Tools: qqman (R), Matplotlib (Python).

Tip: Use alternating colors for chromosomes and highlight significant SNPs for clarity.

5. Circular Plots (Circos): Visualizing Genomic Relationships

Circular plots are ideal for visualizing relationships across the genome, such as structural variations, gene duplications, or synteny.

• Applications: Comparative genomics, structural variation studies.

• Tools: Circos (standalone), Rcircos (R), pyCircos (Python).

Tip: Keep the plot clean and avoid overcrowding to maintain readability.

6. Sankey Diagrams: Tracking Data Flows

Sankey diagrams visualize flows or relationships between categories, often used to track changes in gene expression or pathway enrichment across conditions.

• Applications: Pathway analysis, gene set enrichment analysis.

• Tools: Plotly (Python), networkD3 (R).

Tip: Use gradients or distinct colors to highlight key transitions.

7. Network Graphs: Mapping Interactions

Network graphs represent relationships between entities, such as protein-protein interactions or gene regulatory networks. Nodes represent entities, and edges represent relationships.

• Applications: Systems biology, interactomics.

• Tools: Cytoscape (standalone), igraph (R), NetworkX (Python).

Tip: Use edge thickness or node size to represent interaction strength or centrality.

8. Violin Plots: Visualizing Data Distribution

Violin plots combine a boxplot with a density plot, showing the distribution and variability of data.

• Applications: Single-cell RNA-seq, quantitative trait analysis.

• Tools: Seaborn (Python), ggplot2 (R).

Tip: Split violins by groups for side-by-side comparisons.

9. Time-Series Plots: Monitoring Changes Over Time

Time-series plots display changes in variables across time points, useful for tracking gene expression dynamics or metabolic fluxes.

• Applications: Time-course experiments, cell cycle studies.

• Tools: Matplotlib (Python), ggplot2 (R).

Tip: Smooth the data to highlight trends while avoiding overfitting.

10. Genome Tracks: Visualizing Genomic Features

Genome tracks display multiple layers of genomic data, such as gene annotations, sequencing coverage, and epigenetic marks.

• Applications: ChIP-seq, ATAC-seq, whole-genome sequencing.

• Tools: IGV (standalone), pyGenomeTracks (Python).

Tip: Stack related tracks for direct comparisons.

11. UpSet Plots: Visualizing Set Intersections

UpSet plots are a powerful alternative to Venn diagrams for visualizing intersections between multiple datasets.

• Applications: Overlap analysis for gene sets, pathways, or variants.

• Tools: UpSetR (R), ComplexUpset (Python).

Tip: Use bar plots to represent the size of each intersection for added clarity.

12. Ridge Plots: Comparing Distributions

Ridge plots visualize the distributions of multiple datasets, stacked for easy comparison.

• Applications: Transcriptomics, single-cell RNA-seq.

• Tools: ggridges (R), Matplotlib (Python).

Tip: Use transparency and consistent scaling for better readability.

13. Chord Diagrams: Visualizing Connections Between Groups

Chord diagrams illustrate relationships between categories, such as shared genes between pathways or overlaps in regulatory elements.

• Applications: Pathway overlap, synteny, co-expression networks.

• Tools: Circlize (R), Holoviews (Python).

Tip: Use distinct colors for each group to emphasize relationships.

14. Treemaps: Hierarchical Data Representation

Treemaps visualize hierarchical data as nested rectangles, with area proportional to data size.

• Applications: Ontology enrichment, pathway analysis.

• Tools: Treemapify (R), Plotly (Python).

Tip: Use colors to represent additional variables, like significance or enrichment scores.

15. T-SNE/UMAP Plots: Dimensionality Reduction for Clustering

T-SNE and UMAP plots are great for visualizing high-dimensional data in two dimensions while preserving local or global structure.

• Applications: Single-cell transcriptomics, clustering analyses.

• Tools: scikit-learn (Python), Seurat (R).

Tip: Combine with metadata annotations for better cluster interpretation.

Bringing It All Together

The choice of visualization can significantly impact the insights gained from bioinformatics data. By selecting plots tailored to your data type and analysis goals, you can effectively communicate your findings and make your research more impactful. Whether you’re a seasoned bioinformatician or a beginner, mastering these visualizations will elevate your analyses and presentations.

In fact, there are huge demands for expert biological data analyst. It’s a fairly new  (not exactly) hot area, these bioinformatician are invaluable because they know and understand the significance of biological data for your research and how you can use it for better understanding of biological problems.

The bioinformatics can discover biological patterns and stories in genomic and proteomics data. They can develop the pipeline needed to properly collect, store and analyse it.

Once your research group is ready to make a larger investment and hire a bioinformatician to gain a competitive edge, there are several key traits to seek out in potential candidates. The best bioinformatician are:

1. Highly Skilled - programming skills, experience with the biological software and tools.

The biological data won’t illuminate much if the scientist analysing it doesn’t possess practical programming skills, experience with the biological software and tools and a thorough understanding of basic biological stuff. A solid background in mathematics and statistics is also an indispensable trait.

2. Insight - Real vision, robust understanding and deep insight.

In order to hire the best bioinformatics and computational biologist scientist for your needs, it is always recommended and mostly practiced by the recruiters, to ask each contender to write and develop a sample script/presentation based on a specific set of data you provide. Then, explore the approaches used to deal with data provided and pick up those candidates who convey real vision, robust understanding and deep insight.

3. Energetic – Curiosity to explore

Mostly natural curiosity and enthusiasm for solving big biological problems coupled with an ability to transform data into a scientific stories may place one candidate above the rest. In addition to achieve that, the bioinformatician should be agile enough to quickly modify their methods to suit changes within a particular research.

4. Researcher – Publications

Look for someone who has a keen sense and understanding of concern biological problems. You can judge it by looking at previously published papers and data. It is always recommended to have a look at GitHub and other repository for codes written by her/him.

5. Impressive communicator - Insight that can’t be expressed is worthless.

Good bioinformatics scientists are able to uncover biological patterns and are willing to explain those patterns in clear and helpful ways through thoughtful and open communication. In other words, they should must have good scientific writing skills. A computational biologis/bioinformatician  should know how to present the data and tell a scientific story through numbers/images.

https://bsapubs.onlinelibrary.wiley.com/doi/pdf/10.1002/aps3.1207

Address of the bookmark: http://eyechrom.com:3838/EyeChrom/

Address of the bookmark: http://sysomics.com/deephic

Address of the bookmark: https://www.encodeproject.org/data-standards/reference-sequences/

Install latest Perl (with supporting multithreading) and CPANMinus.

 $ cd
 $ git clone git://github.com/tokuhirom/plenv.git ~/.plenv
 $ git clone git://github.com/tokuhirom/Perl-Build.git ~/.plenv/plugins/perl-build/
 $ echo 'export PATH="$HOME/.plenv/bin:$PATH"' >> ~/.bashrc
 $ echo 'eval "$(plenv init -)"' >> ~/.bashrc
 $ source ~/.bashrc
 $ plenv install 5.18.1 -Dusethreads
 $ plenv rehash
 $ plenv global 5.18.1
 $ plenv install-cpanm

• git is a distributed revision control and source code management software which can help you to download files from GitHub server.
• echo means "print".
• >> means adding the output into the end of the file, while > means adding the output by overwriting the whole file. Please use> with additional cares.
• In Linux system, there are two types of outputs when you execute a command. One is called standard output (or sometimes STDOUT for short), and the other is a standard error (STDERR). 1> is for STDOUT only, 2> is for STDERR only, and &>means for both. In default > is the same to 1>.
• exec is execution.
• Remember to install Perl in supporting multithreading (with option -Dusethreads), which is important for many NGS analysis packages (e.g. Trinity). In this setting, you can use multiple CPU for Perl software.
• Install the CPAN (Comprehensive Perl Archive Network) manager software, CPANMinus, by install-cpanm.

You can use plenv global and plenv local to change the different version of Perl to fulfil different needs of your Perl software.

For example, if the specific version of Perl is not compatible with your script, you can switch to the different version by:

 $ plenv local 

• It is similar to set the local version of your script language when you use pyenv and rbenv as the following.

Put the following path into ~/.bashrc file.

export PERL5LIB="$HOME/.plenv/build/perl-5.18.1/lib"

Install BioPerl and PerlIO::gzip

CPANMinus is a very good Perl module manager, use cpanm to install BioPerl can save you a lot of time. Here are some useful modules:

$ cpanm Bio::Perl
$ cpanm Bio::SearchIO
$ cpanm PerlIO::gzip

For more information, please visit: https://github.com/tokuhirom/plenv

Other tools

https://github.com/shenwei356/taxonkit

• ETE, version: 3.1.1
• BioPython, version: 1.73
• taxadb, version: 0.10.1
• TaxonKit, version: 0.5.0

Address of the bookmark: https://pypi.org/project/ete3/3.1.1/

Address of the bookmark: https://github.com/dhlbh/BASE

USAGE:

• -query: sequence A in fasta format
• -db: sequence B in fasta format
• -out: output matrix
• -kmer Integer: k>1 (default 32) Use 32 for chromosomes and genomes and 16 for small bacteria
• -diffuse Integer: z>0 (default 4) Use 4 for everything - if using large plant genomes you can try using 1
• -dimension Size of the output matrix and plot. Integer: d>0 (default 1000) Use 1000 for everything that is not full genome size, where 2000 is recommended

Address of the bookmark: https://github.com/estebanpw/chromeister