data visualization
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History of the Human Genome Assembly
22 years, 3,117,275,501 bases and 0 gaps later
Round numbers are always false.
— Samuel Johnson
1 · History of the human genome assembly — year by year
These are based on the Scientific American Graphic Science illustration, which used 1,000,000 base regions. The mitochondrial chromosome is not shown because it is much smaller (16,569 bases) than a region.
how big are things on the image?
Imperial units
If the poster is printed at 24" × 24" then the scale is 0.24" per 10,000,000 bases and the total length of all chromosomes is 74" or 6.2'.
SI units
If the poster is printed at 50 cm × 50 cm, the scale is 0.49 cm per 10,000,000 bases and the total length of all chromosomes is 154.2 cm or 1.54 m.
1.1 · in 1,000,000 base regions
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▲ THE HISTORY OF THE HUMAN GENOME ASSEMBLY — YEAR BY YEAR | Each chromosome is divided into 1,000,000 base regions, colored to indicate when the region reached 50, 90 or 99%+ completion. Completion from previous years is carried over in grey. Chromosomes 1–22, X and Y are shown. Mitochondrial chromosome is not shown.
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1.2 · in 250,000 base regions
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▲ THE HISTORY OF THE HUMAN GENOME ASSEMBLY — YEAR BY YEAR | Each chromosome is divided into 250,000 base regions, colored to indicate when the region reached 50, 90 or 99%+ completion. Completion from previous years is carried over in grey. Chromosomes 1–22, X and Y are shown. Mitochondrial chromosome is not shown.
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1.3 · in 5,000,000 base regions
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▲ THE HISTORY OF THE HUMAN GENOME ASSEMBLY — YEAR BY YEAR | Each chromosome is divided into 5,000,000 base regions, colored to indicate when the region reached 50, 90 or 99%+ completion. Completion from previous years is carried over in grey. Chromosomes 1–22, X and Y are shown. Mitochondrial chromosome is not shown.
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2 · History of the human genome assembly — when was it completed?
how big are things on the image?
Imperial units
If the poster is printed at 24" × 24" then the scale is 0.41" per 1,000,000 bases and the total length of all chromosomes is 1,272.4" or 106.0'.
SI units
If the poster is printed at 50 cm × 50 cm, the scale is 0.85 cm per 1,000,000 bases and the total length of all chromosomes is 2,650.7 cm or 26.51 m.
2.1 · in 50,000 base regions
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▲ THE HISTORY OF THE HUMAN GENOME ASSEMBLY — WHEN WAS IT COMPLETED? | The human genome is shown chromosome by chromosome (1—22, X, Y), with color representing the assembly version in which each 50,000 base region reached 99%+ completion. The mitochondrial chromosome is not shown.
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2.2 · in 250,000 base regions
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▲ THE HISTORY OF THE HUMAN GENOME ASSEMBLY — WHEN WAS IT COMPLETED? | The human genome is shown chromosome by chromosome (1—22, X, Y), with color representing the assembly version in which each 250,000 base region reached 99%+ completion. The mitochondrial chromosome is not shown.
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3 · Structure of the Dec 2013 hg38 human genome assembly
how big are things on the image?
Imperial units
If the poster is printed at 24" × 24" then the scale is 0.28" per 1,000,000 bases and the total length of all chromosomes is 859.1" or 71.6'.
SI units
If the poster is printed at 50 cm × 50 cm, the scale is 0.57 cm per 1,000,000 bases and the total length of all chromosomes is 1,789.8 cm or 17.90 m.
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▲ FILLING IN THE GAPS | Before the March 2022 telomere-to-telomere assembly, the most recent humang enome assembly was from 2013 (hg38). This assembly had 1,001 gaps in chromosomes 1–22, X and Y. This panel shows the size, location and distribution of these gaps. To make small regions visible, those smaller than 230 kb are shown at a fixed size. The mitochondrial chromosome is included in the image and includes a single gap.
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▲ FILLING IN THE GAPS | Before the March 2022 telomere-to-telomere assembly, the most recent humang enome assembly was from 2013 (hg38). This assembly had 1,001 gaps in chromosomes 1–22, X and Y. This panel shows the size, location and distribution of these gaps. To make small regions visible, those smaller than 230 kb are shown at a fixed size. The mitochondrial chromosome is included in the image and includes a single gap.
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4 · Chromosome spirals — sequence length in CHM13v2
These posters are based on a design I made for the 20th anniversary of Canada's Michael Smith Genome Sciences Center, but with chromosome lengths updated to the
CHM13v2 (Mar 2022) assembly.
how big are things on the image?
Imperial units
If the poster is printed at 24" × 24" then the scale is 0.46" per 1,000,000 bases and the total length of all spirals is 1,428.3" or 119.0'.
SI units
If the poster is printed at 50 cm × 50 cm, the scale is 0.95 cm per 1,000,000 bases and the total length of all spirals is 2,975.6 cm or 29.76 m.
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▲ Human chromosomes 1–22, X, Y and M are shown as spirals, whose length corresponds to the number of bases (A, T, G, or C) in their sequence in the first gapless telomere-to-telomere assembly of the human genome (
CHM13v2, March 2022).
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▲ Human chromosomes 1–22, X, Y and M are shown as spirals, whose length corresponds to the number of bases (A, T, G, or C) in their sequence in the first gapless telomere-to-telomere assembly of the human genome (
CHM13v2, March 2022).
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news
+ thoughts
Sat 23-03-2024
We'd like to say a ‘cosmic hello’: mathematics, culture, palaeontology, art and science, and ... human genomes.
▲ SANCTUARY PROJECT | A cosmic hello of art, science, and genomes.
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▲ SANCTUARY PROJECT | Benoit Faiveley, founder of the Sanctuary project gives the Sanctuary disc a visual check at CEA LeQ Grenoble (image: Vincent Thomas).
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▲ SANCTUARY PROJECT | Sanctuary team examines the Life disc at INRIA Paris Saclay (image: Benedict Redgrove)
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Sat 23-03-2024
All animals are equal, but some animals are more equal than others. —George Orwell
This month, we will illustrate the importance of establishing a baseline performance level.
Baselines are typically generated independently for each dataset using very simple models. Their role is to set the minimum level of acceptable performance and help with comparing relative improvements in performance of other models.
▲ Nature Methods Points of Significance column: Comparing classifier performance with baselines.
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Unfortunately, baselines are often overlooked and, in the presence of a class imbalance5, must be established with care.
Megahed, F.M, Chen, Y-J., Jones-Farmer, A., Rigdon, S.E., Krzywinski, M. & Altman, N. (2024) Points of significance: Comparing classifier performance with baselines. Nat. Methods 20.
Sat 09-03-2024
Celebrate π Day (March 14th) and dig into the digit garden. Let's grow something.
▲ 2024 π DAY | A garden of 1,000 digits of π.
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Thu 18-01-2024
Huge empty areas of the universe called voids could help solve the greatest mysteries in the cosmos.
My graphic accompanying How Analyzing Cosmic Nothing Might Explain Everything in the January 2024 issue of Scientific American depicts the entire Universe in a two-page spread — full of nothing.
▲ How Analyzing Cosmic Nothing Might Explain Everything. Text by Michael Lemonick (editor), art direction by Jen Christiansen (Senior Graphics Editor), source: SDSS
The graphic uses the latest data from SDSS 12 and is an update to my Superclusters and Voids poster.
Michael Lemonick (editor) explains on the graphic:
“Regions of relatively empty space called cosmic voids are everywhere in the universe, and scientists believe studying their size, shape and spread across the cosmos could help them understand dark matter, dark energy and other big mysteries.
To use voids in this way, astronomers must map these regions in detail—a project that is just beginning.
Shown here are voids discovered by the Sloan Digital Sky Survey (SDSS), along with a selection of 16 previously named voids. Scientists expect voids to be evenly distributed throughout space—the lack of voids in some regions on the globe simply reflects SDSS’s sky coverage.”
voids
Sofia Contarini, Alice Pisani, Nico Hamaus, Federico Marulli Lauro Moscardini & Marco Baldi (2023) Cosmological Constraints from the BOSS DR12 Void Size Function Astrophysical Journal 953:46.
Nico Hamaus, Alice Pisani, Jin-Ah Choi, Guilhem Lavaux, Benjamin D. Wandelt & Jochen Weller (2020) Journal of Cosmology and Astroparticle Physics 2020:023.
Sloan Digital Sky Survey Data Release 12
constellation figures
Alan MacRobert (Sky & Telescope), Paulina Rowicka/Martin Krzywinski (revisions & Microscopium)
stars
Hoffleit & Warren Jr. (1991) The Bright Star Catalog, 5th Revised Edition (Preliminary Version).
cosmology
H0 = 67.4 km/(Mpc·s), Ωm = 0.315, Ωv = 0.685. Planck collaboration Planck 2018 results. VI. Cosmological parameters (2018).
Tue 02-01-2024
It is the mark of an educated mind to rest satisfied with the degree of precision that the nature of the subject admits and not to seek exactness where only an approximation is possible. —Aristotle
In regression, the predictors are (typically) assumed to have known values that are measured without error.
Practically, however, predictors are often measured with error. This has a profound (but predictable) effect on the estimates of relationships among variables – the so-called “error in variables” problem.
▲ Nature Methods Points of Significance column: Error in predictor variables.
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Error in measuring the predictors is often ignored. In this column, we discuss when ignoring this error is harmless and when it can lead to large bias that can leads us to miss important effects.
Altman, N. & Krzywinski, M. (2024) Points of significance: Error in predictor variables. Nat. Methods 20.
Background reading
Altman, N. & Krzywinski, M. (2015) Points of significance: Simple linear regression. Nat. Methods 12:999–1000.
Lever, J., Krzywinski, M. & Altman, N. (2016) Points of significance: Logistic regression. Nat. Methods 13:541–542 (2016).
Das, K., Krzywinski, M. & Altman, N. (2019) Points of significance: Quantile regression. Nat. Methods 16:451–452.