Round numbers are always false.
— Samuel Johnson
Moskowitz, C. & Krzywinski M. See How Scientists Put Together the Complete Human Genome (2022) Scientific American 327(2):92.
Zahn, L. Filling the gaps (2022) Science 376:42–43.
Pennisi, E. Most complete human genome yet reveals previously indecipherable DNA Science (31 March 2022).
The initial draft of the human genome assembly was described simultaneously in two papers. The Nature paper by the International Human Genome Sequencing Consortium described the public open source effort. The Science paper described the closed source commercial effort by Celera. These two papers highlighted the competition between public and private genomics efforts .
IHGSC Initial sequencing and analysis of the human genome (2001) Nature 409:860–921.
Venter CJ et al. The sequence of the human genome (2001) Science 291:1304–1351.
IHGSC Finishing the euchromatic sequence of the human genome (2004) Nature 431:931–945.
Nurk S, Koren S, Rhie A, Rautiainen M, et al. The complete sequence of a human genome. (2022) Science 376:44–53.
List of companion (and previous) papers
Download the CHM13v2 T2T genome assembly
Celebrate π Day (March 14th) and enjoy the art — but only if you're part of the 5%.
Go ahead, see what you can't see.
Authentic and accurate images of Ishihara's test plates photographed (and lovingly color-corrected) from the 38-plate Ishihara's Tests for Colour Deficiency.
I also provide the position, size, and color of each circle on each test plate.
What immortal hand or eye, could frame thy fearful symmetry? — William Blake, "The Tyger"
This month, we look at symmetric regression, which, unlike simple linear regression, it is reversible — remaining unaltered when the variables are swapped.
Simple linear regression can summarize the linear relationship between two variables `X` and `Y` — for example, when `Y` is considered the response (dependent) and `X` the predictor (independent) variable.
However, there are times when we are not interested (or able) to distinguish between dependent and independent variables — either because they have the same importance or the same role. This is where symmetric regression can help.
Luca Greco, George Luta, Martin Krzywinski & Naomi Altman (2025) Points of significance: Symmetric alternatives to the ordinary least squares regression. Nat. Methods 22:1610–1612.
Fuelled by philanthropy, findings into the workings of BRCA1 and BRCA2 genes have led to groundbreaking research and lifesaving innovations to care for families facing cancer.
This set of 100 one-of-a-kind prints explore the structure of these genes. Each artwork is unique — if you put them all together, you get the full sequence of the BRCA1 and BRCA2 proteins.
The needs of the many outweigh the needs of the few. —Mr. Spock (Star Trek II)
This month, we explore a related and powerful technique to address bias: propensity score weighting (PSW), which applies weights to each subject instead of matching (or discarding) them.
Kurz, C.F., Krzywinski, M. & Altman, N. (2025) Points of significance: Propensity score weighting. Nat. Methods 22:638–640.