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Daily briefing: The human genome sequence, 20 years on

Celebrate 20 years since the publication of the first drafts of the human genome. Plus, Neanderthal-like ‘mini-brains’ created in the laboratory with CRISPR, and Stonehenge was erected in Wales first.

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A museum curator holds a cast of a Neanderthal skull.

Most research on Neanderthal brains has to be done by looking at the size and shape of the fossilized skulls.Credit: Natural History Museum, London/Science Photo Library

Neanderthal-like ‘mini brains’ are bumpier

Brain-like organoids engineered to contain a NOVA1 gene variant found in extinct Neanderthals and Denisovans are smaller and more roughly textured than those with the human version of the gene. NOVA1 influences brain development, and the new study suggests the human variant was important in our evolution. This is the first time researchers have used genome editing to revert a gene to its archaic form in human cells used to grow brain tissue.

Nature | 5 min read

Reference: Science paper

Academic mothers face pandemic toll

New data show exactly how the pandemic has raised the barriers — and created new ones — for women and mothers working in academia. A paper published this week showed that when a Canadian grant-funding agency asked researchers to submit proposals in just 8 days, only 29% of applications came from women. When the agency offered another grant round — but extended the deadline to 19 days and reduced the paperwork — women’s applications jumped to 39%. Another working paper from the US National Bureau of Economic Research published last month found that, during the pandemic, mothers have experienced a drop in research hours that is 33% larger than the reduction fathers have faced.

Science | 4 min read

Reference: PNAS paper & NBER working paper

Stonehenge was erected in Wales first

Stonehenge might have been built from an earlier stone circle: Waun Mawn in west Wales. Stonehenge’s majestic bluestone pillars had already been traced to their source. The stones were excavated from quarries in Wales as early as 3400 BC, about 500 years before Stonehenge was built. Now, researchers have used carbon dating and other techniques to suggest that similar stones that once stood in Waun Mawn were removed at just about the time the first construction at Stonehenge began. The findings further develop a picture of an interconnected society centered on the Irish Sea that flourished in the fourth millenium BC.

Science | 5 min read

Reference: Antiquity paper

The human genome sequence, 20 years on

Data visualisation illustration showing gene publications throughout the years.

Special

The human genome at 20

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

Infographics

The human genome: by the numbers

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

Mapping humanity’s rich tapestry

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

Podcast

The human genome, at first sight

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

Subscribe to the Nature Podcast on Apple Podcasts, Google Podcasts or Spotify.

From earlier in the week:

Feature

The Tower of Babel of human genome data

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

Timeline

Milestones in genomic sequencing

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.

Books & culture

Fisheries technicians use electrofishing techniques to stun Asian Carp

Increasingly madcap measures are being tried to control the invasive Asian carp in the US midwest.Credit: USACE/Alamy

From the front lines of geoengineering

In her latest book, Pulitzer-prizewinning environment reporter Elizabeth Kolbert asks: could some environmental fixes be worse than the problems? Under The White Sky is an arresting montage of just how hard it is to return balance to our exquisitely interconnected biosphere, and the extraordinary efforts people go to in the attempt, writes reviewer Gaia Vince.

Nature | 5 min read

Futures: Kintsugi for a broken heart

“Time is real, and it’s as fleeting as a puppy already halfway out the back door,” says author Brent Baldwin, who was inspired by his own teenage daughter to write the latest short story for Nature’s Futures series. “I hope this story has reached you when you needed it, dear reader. I hope that your heart might heal a little faster and be even more beautiful than before. Broken hearts do mend. That’s real, too. I promise.”

Nature | 4 min read

Where I work

Elena Rodriguez Falcon poses for a portrait in a lab space at the New Model Institute for Technology and Engineering

Elena Rodriguez-Falcon is the president and chief executive of the New Model Institute for Technology and Engineering in Hereford, UK.Credit: Leonora Saunders for Nature

“Helping to build a university from scratch is the hardest thing I’ve done in my life, but the effort has paid off,” says Elena Rodriguez-Falcon, the president and chief executive of the New Model Institute for Technology and Engineering in Hereford, UK. The innovative institution is discarding the requirement for standard pre-university qualifications, as well as the typical focus on lectures and textbooks. “Instead, [students will] spend their time working on actual projects,” says Rodriguez-Falcon. “You don’t train violinists by making them read about violins. You put the instrument in their hands and give them a chance to play.”

Nature | 3 min read

Quote of the day

Today, Leif Penguinson is getting to know the cave-dwelling creatures who live in the underground forests of the Janelão cave in the Cavernas do Peruacu National Park in Brazil. Can you find the penguin?

The answer will be in Monday’s e-mail, all thanks to Briefing photo editor and penguin wrangler Tom Houghton.This newsletter is always evolving — tell us what you think!

Please send your feedback to briefing@nature.com.

Flora Graham, senior editor, Nature Briefing

With contributions by Nicky Phillips and Ariana Remmel

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