2021
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Science of Success

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

Abstract

The 20th anniversary of the publication of the first draft of the human genome 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 distill 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 RNA transcripts; around 1 million single nucleotide polymorphisms (SNPs); human diseases with documented genetic roots; approved and experimental pharmaceuticals; and scientific publications between 1900 and 2017.

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