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Grammar-Based
Interactive Visualization of
Genomics Data
Biomedical Informatics, Harvard Medical School
School of Engineering and Applied Sciences, Harvard University
Sehi L’Yi Qianwen Wang Fritz Lekschas Nils Gehlenborg
GENOME-MAPPED DATA
Genomic Axis
> 3,000,000,000 Base Pairs
GENOME-MAPPED DATA
Chromosome
~3,000,000 Base Pairs
GENOME-MAPPED DATA
Gene
~15,000 Base Pairs
GENOME-MAPPED DATA
Nucleotides
1 Base Pair
GENOME-MAPPED DATA
GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
CHALLENGES FOR VISUALIZING GENOME-MAPPED DATA
Whole Genome
> 3Bbp
Chromosome
~3Mbp
Gene
~15Kbp
Nucleotides
1bp
Multi-Scale Multi-Focus Multi-Modality
BigWig
BED
BAM
…
Large Data Size
~ Hundreds of GB
Large Design Space
~ Hundreds of Visualizations
Nusrat et al. 2019
CHALLENGES FOR VISUALIZING GENOME-MAPPED DATA
GENOMICS DATA VISUALIZATION TOOLS
... 83 Tools From Survey (Nusrat et al. 2019)
Circos
GenomeSpy ggBio
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
GENOMICS DATA VISUALIZATION TOOLS
Circos
GenomeSpy
ggBio
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Less Expressive More Expressive
Circos
ggBio
GenomeSpy
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
GENOMICS DATA VISUALIZATION TOOLS
Less Expressive More Expressive
Tailored For Specific Problems
Circos
ggBio
GenomeSpy
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
GENOMICS DATA VISUALIZATION TOOLS
Less Expressive More Expressive
Genome Browser
Circos
GenomeSpy
MizBee
CNVkit
Gremlin
GIVE
WebLogo
Less Expressive More Expressive
ggBio
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GENOMICS DATA VISUALIZATION TOOLS
Genome Browser
Heatmap
…
Bar Chart Line Chart
Scatterplot Gene Annotation
Chart Templates
DEVELOPING NEW VISUALIZATION IN HIGLASS
Circos
ggBio
GenomeSpy
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Less Expressive More Expressive
DEVELOPING NEW VISUALIZATION IN HIGLASS
“Web-based Visualization Tools for Genome Interaction Matrices”
Kerpedjiev et al. 2017
HiGlass
DEVELOPING NEW VISUALIZATION IN HIGLASS
ClinVar Track
Sequence Track
Transcript Track
HiGlass Plugin Tracks
. . .
Kerpedjiev et al. 2017
HiGlass
ClinVar Track
Transcript Track
HiGlass Plugin Tracks
. . .
Sequence Track
SequenceTrack.js
DEVELOPING NEW VISUALIZATION IN HIGLASS
ClinVar Track
Transcript Track
HiGlass Plugin Tracks
. . .
Sequence Track
~1,000 Lines of Code
Pixi.js, JavaScript
SequenceTrack.js
DEVELOPING NEW VISUALIZATION IN HIGLASS
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Circos
GenomeSpy
ggBio
MizBee
CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Less Expressive More Expressive
DATA VISUALIZATION TOOLS
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Circos
GenomeSpy
ggBio
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Less Expressive More Expressive
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
DATA VISUALIZATION TOOLS
Less Expressive More Expressive
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Low-Level Libraries
DATA VISUALIZATION TOOLS
Less Expressive More Expressive
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
High-Level
Grammars, Libraries, and Tools
DATA VISUALIZATION TOOLS
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
Circos
ggBio
General-Purpose
Genomic-Specific
Less Expressive More Expressive
• Static visualizations only
DATA VISUALIZATION TOOLS
Circos
ggBio
Pixi.js
Tableau
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
General-Purpose
Genomic-Specific
Less Expressive More Expressive
Vega
Vega-Lite
ggPlot2
Lyra
GenomeSpy
• Based on general data formats (e.g., CSV)
• Limited scalability for large genomics datasets
Circos Krzywinski et al.
• Limited support of radial visualizations
DATA VISUALIZATION TOOLS
Less Expressive More Expressive
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
DATA VISUALIZATION TOOLS
Gosling.js
Less Expressive More Expressive
Vega
Vega-Lite
Pixi.js
ggPlot2
Tableau
Lyra
Spotfire
MS Power BI
MS Excel
Google Charts
D3.js
General-Purpose
Genomic-Specific
Circos
ggBio
GenomeSpy
MizBee CNVkit
Gremlin
HiGlass
IGV
EpiViz
UCSC GB
JBrowse
WashU GB
GIVE
WebLogo
DATA VISUALIZATION TOOLS
Gosling.js
Multi-Scale Multi-Focus Multi-Modality
Large Data Size
Large Design Space
GOSLING’S APPROACHES
Grammar of Graphics
Wilkinson et al. 2012
Taxonomy of Genomics Visualizations
Nusrat et al. 2019
Coordinated Interactions
Zoom & Pan, Brushing, Linking
Semantic Zoom
Perlin and Fox 1993
HiGlass Infrastructure
Kerpedjiev et al. 2017
Gosling Grammar
EXPRESSIVENESS: ENCODING
{
"data": {
"url": “https://gosling-lang.org/data/example1.bw”,
"type": “bigwig", ...
},
"mark": "rect",
"x": {"field": "position", "type": “genomic" },
"color": {"field": "peak", "type": “quantitative" },
"width": 400,
"height": 130
}
1
2
3
4
5
6
7
8
9
10
11
{
"data": {
"url": “https://gosling-lang.org/data/example1.bw”,
"type": “bigwig", ...
},
"mark": “line",
"x": {"field": "position", "type": “genomic" },
"y": {"field": "peak", "type": “quantitative" },
"width": 400,
"height": 130
}
1
2
3
4
5
6
7
8
9
10
11
EXPRESSIVENESS: ENCODING
{
"data": {
"url": “https://gosling-lang.org/data/example1.bw”,
"type": “bigwig", ...
},
"mark": "point",
"x": {"field": "position", "type": “genomic" },
"y": {"field": "peak", "type": “quantitative" },
"width": 400,
"height": 130
}
1
2
3
4
5
6
7
8
9
10
11
EXPRESSIVENESS: ENCODING
{
"data": {
"url": “https://gosling-lang.org/data/example1.bw”,
"type": “bigwig", ...
},
"mark": "point",
"x": {"field": "position", "type": “genomic" },
"y": {"field": "peak", "type": “quantitative" },
"size": {"field": "peak", "type": “quantitative" },
"color": {"field": "peak", "type": “quantitative" },
"width": 400,
"height": 130
}
1
2
3
4
5
6
7
8
9
10
11
12
13
EXPRESSIVENESS: ENCODING
{
"alignment": "overlay",
"data": {
"url": "https://gosling-lang.org/data/example1.bw",
"type": "bigwig", ...
},
"tracks": [
{ "mark": "line", ... },
{ "mark": "point", ... },
],
“width": 400,
"height": 130
}
1
2
3
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5
6
7
8
9
10
11
12
13
EXPRESSIVENESS: OVERLAYING
1
2
3
4
5
6
7
8
9
EXPRESSIVENESS: OVERLAYING
{
"alignment": “overlay”,
"tracks": [
{ /* Gene Interval */ },
{ /* Exon Interval */ },
{ /* Gene Name */ }
]
}
EXPRESSIVENESS: OVERLAYING
{
"alignment": “overlay”,
"tracks": [
{ /* Gene Interval */ },
{ /* Exon Interval */ },
{ /* Gene Name */ }
]
}
1
2
3
4
5
6
7
8
9
EXPRESSIVENESS: OVERLAYING
{
"alignment": “overlay”,
"tracks": [
{ /* Bands */ },
{ /* Centromere */ },
{ /* Labels */ }
]
}
1
2
3
4
5
6
7
8
9
EXPRESSIVENESS: STACKING
{
"alignment": “overlay”,
"tracks": [
{ /* Bands */ },
{ /* Centromere */ },
{ /* Labels */ }
]
}
1
2
3
4
5
6
7
8
9
10
11
12
13
14
EXPRESSIVENESS: STACKING
{
"alignment": "stack",
"tracks": [
{ /* Stacked Bar Chart */ },
]
}
{
"alignment": “overlay”,
"tracks": [
{ /* Bands */ },
{ /* Centromere */ },
{ /* Labels */ }
]
}
1
2
3
4
5
6
7
8
9
10
11
12
13
14
EXPRESSIVENESS: MULTI-VIEW ARRANGEMENT
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5
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8
{
"arrangement": "parallel",
"views": [
{ /* Chromosome 1 */ },
{ /* Chromosome 2 */ },
{ /* Chromosome 3 */ }
]
}
EXPRESSIVENESS: CIRCULAR LAYOUT
{
"layout": “circular",
"arrangement": "parallel",
"views": [
{ /* Chromosome 1 */ },
{ /* Chromosome 2 */ },
{ /* Chromosome 3 */ }
]
}
1
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3
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5
6
7
8
9
EXPRESSIVENESS: CIRCULAR LAYOUT
COORDINATED INTERACTIVITY: BRUSHING & LINKING
COORDINATED INTERACTIVITY: BRUSHING & LINKING
COORDINATED INTERACTIVITY: BRUSHING & LINKING
COORDINATED INTERACTIVITY: BRUSHING & LINKING
MULTI-SCALE LOLLIPOP PLOT
MULTI-SCALE LOLLIPOP PLOT
COMPARATIVE MATRICES
COMPARATIVE MATRICES
APPLICATIONS USING GOSLING.JS
APPLICATIONS USING GOSLING.JS
GOS ! https://github.com/gosling-lang/gos
GOS ! https://github.com/gosling-lang/gos
ONLINE EDITOR https://gosling.js.org
Documentation & Tutorials
DOCUMENTATION & TUTORIALS http://gosling-lang.org

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Grammar-Based 
Interactive Visualization of Genomics Data