A wealth of discovery built on the Human Genome Project -- by the numbers:

[NNadir]

The Human Genome Project was an understated initiative of the Clinton years, just as the space program was an initiative of the Kennedy/Johnson years.

"Big Science" changes the world, usually for the better.

From the Nature News sections, should be open sourced: A wealth of discovery built on the Human Genome Project — by the numbers. (Alexander J. Gates, Deisy Morselli Gysi, Manolis Kellis & Albert-László BarabásiNature 590, 212-215 (2021))

Some excerpts:

A new analysis traces the story of the draft genome’s impact on genomics since 2001, linking its effects on publications, drug approvals and understanding of disease.

The 20th anniversary of the publication of the first draft of the human genome1,2 offers an opportunity to track how the project has empowered research into the genetic roots of human disease, changed drug discovery and helped to revise the idea of the gene itself.

Here we distil these impacts and trends. We combined several data sets to quantify the different types of genetic element that have been discovered and that generated publications, and how the pattern of discovery and publishing has changed over the years. Our analysis linked together data including 38,546 RNA transcripts; around 1 million single nucleotide polymorphisms (SNPs); 1,660 human diseases with documented genetic roots; 7,712 approved and experimental pharmaceuticals; and 704,515 scientific publications between 1900 and 2017 (see Supplementary information; SI ).

The results highlight how the Human Genome Project (HGP), with its comprehensive list of protein-coding genes, spurred a new era of elucidating the function of the non-coding portion of the genome and paved the way for therapeutic developments. Crucially, the results track the emergence of a systems-level view of biology alongside the conventional single-gene perspective, as researchers mapped the interactions between cellular building blocks (see ‘No jump for big teams’)...

...These connections offer a snapshot of the evolution of the research landscape before and after the HGP. It shows an intense focus on a small number of ‘superstar’ protein-coding genes, potentially to the detriment of interesting work that could be done on others. There has been a pivot towards non-protein-coding sections of the genome, and to understanding interactions between genetic material and proteins. And drug discovery has been grounded in just a few protein targets.

Some of these trends are familiar to biologists, but to quantify and visualize them is to consider them anew...

...Superstar genes

The popular perception is that the HGP marked the start of the intensive search for protein-coding genes. In fact, the 2001 draft HGP paper signalled the end of a decades-long hunt1,2. Indeed, evidence for the first protein-coding gene emerged in 1902, with the discovery of the hormone secretin4 (SCT gene), 50 years before the structure of DNA was uncovered, and 75 years before genome sequencing became commonplace. Our analysis shows that, between the start of the HGP in 1990 and its completion in 2003 (after the draft was published in 2001), the number of discovered (or ‘annotated’) human genes grew drastically...

A graphic from the article:

...Intense study is, of course, justified for genes that have profound biological importance. A good example is TP53 — it is crucial to cell growth and death, and leads to cancer when inactivated or altered. Variations in this gene are found in more than 50% of tumour sequences. It is mentioned in 9,232 publications between 1976 and 2017 (see SI, Fig. S4)...

...Drug discovery

Before about the 1980s, drugs were found largely by serendipity. Their molecular and protein targets were usually unknown. Until 2001, the probability of knowing all of a drug’s protein targets was less than 50% in any given year. The HGP changed this. Now, the targets are known for almost all drugs licensed in the United States each year (see ‘Twenty years of junk, stars and drugs: Drug targets’)...

This is evidence on how big science, funded by big Government, brings big results with big benefits to humanity.