The publication of the first drafts of the human genome launched a new era in biological discovery, collapsing the number of expected genes, but vastly expanding the understanding of genetic regulation. Now, as researchers pump out individual genomes and genomic analyses by the tens of thousands, the field is contending with some of the same central conflicts regarding data availability, equity and privacy that it faced at the outset. Nature looks at what the 20 years in a post-genome world has wrought, and what to expect in the next 20.
Nature | 8-article collection
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. Enjoy a glittering, chandelier-like visualization of human genome data in a new analysis of its effects on publications, drug approvals and understanding of disease.
Nature | 9 min read
News & Views
In the 20 years since the first drafts of the human genome were made public, an explosion in genome sequencing has revealed how our evolutionary history and health can be understood by analysing the diversity in our genomes. “We have genomes for hundreds of thousands of individuals — more than was imaginable 20 years ago,” write genetic epidemiologists Charles Rotimi and Adebowale Adeyemo. “Even so, we are just beginning to sequence diverse populations in the numbers needed to realize the promise of genomics.”
Nature | 8 min read
This week marks the 20th anniversary of a scientific milestone — the publication of the first draft of the human genome. Magdalena Skipper, Nature’s editor-in-chief, tells the Nature Podcast her recollections of genomics at the turn of the millennium, and the legacy of the achievement. “One of the things that I remember the most was that feeling of coming to the lab — in my case to work on C. elegans — turning on the computer and going to the database to see if ‘my favourite part of the genome’ had been sequenced overnight,” says Skipper. “That was an amazing feeling, which I think is hard to imagine today.”
Nature Podcast | 27 min listen
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From earlier in the week:
Data sharing was a core principle that led to the success of the HGP 20 years ago. Now, scientists are struggling to keep information free. The principles laid out by the HGP, and later adopted by journals and funding agencies, meant that anyone should be able to access the data created for published genome studies and use them to power discovery. Today, researchers say they are trapped in a ‘Tower of Babel’ containing their data: a patchwork of repositories, with various rules for access and no standard data formatting.
Nature | 13 min read
Explore a timeline of DNA sequencing, one of the most influential tools in biomedical research. It goes from the development of Maxam–Gilbert sequencing and Sanger sequencing in 1977 — which helped Walter Gilbert and Frederick Sanger to win the 1980 Nobel Prize in Chemistry — to the publication of the first draft of the human genome 20 years ago this week, and beyond.
Nature | Leisurely scroll
This article is editorially independent and produced with financial support from Illumina.