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The Human Genome Is—Finally!—Complete

The repeat-rich segments of the human genome do not usually contain genes, which is one reason they’ve long been neglected. Geneticists have focused largely on genes because their function is obvious and simple: A gene encodes a protein. (One big surprise of the earlier drafts of the human genome is how little of our DNA actually encodes proteins—only 1 percent. The role of the remaining 99 percent is becoming clearer.) Indeed, there have been hints that these repeat-rich regions also play important roles in how genes get expressed and passed on, and anomalies in them have been linked to cancer and aging. The consortium found 79 new genes hidden among the repeats too. With a map of these repeating…

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Featured

 The human genome needs updating. But how do we make it fair?

Healthcare’s standard genome is mostly based on one American. As we enter the era of personalised medicine, this bias has drawbacks for much of the world’s population

Articles of Interest

It Takes 100 Hours to Analyze a Human Genome for Disease

Personalized medicine will remain a (mostly unreliable) luxury item until analysis tactics improve.

'The Genome Odyssey’ Review: From Code to Clinic

The effort to bring data from the human genome into medical therapy and practice has been thrilling and frustrating.

25 Down And 71,632 To Go: Scientists Seek Genomes Of All Critters With A Backbone

An effort to understand the full genetic makeup of more than 70,000 mammals, birds, reptiles, amphibians and fishes has taken some major steps forward, with scientists unveiling the DNA sequences of 25 species including the Canada lynx, platypus, and zig-zag eel. What's more, in a series of reports published in this week's Nature and other journals, researchers show that their strategies for figuring out an animal's DNA sequences can produce high-quality results with far fewer errors than earlier techniques.

Audacious project plans to create human genomes from scratch

Scientists revealed on Thursday that they plan to launch a project to synthesize human and other complete genomes from off-the-shelf parts, a prospect that ignited a storm of controversy last month when a closed meeting to discuss such an undertaking was held.

Charting changes in a pathogen’s genome yields clues about its past and hints about its future

Using what are called phylodynamic methods that can track a pathogen’s travels via changes in its genes, researchers are able to pinpoint factors like where and when outbreaks start, the number of undetected infections and common routes of transmission.

Finally, the Entire Human Genome Is Here (For Real This Time)

Scientists finished mapping the final 8 percent of the human genome last May. Now, the full sequence has been published.

First ‘Gapless’ Human Genome Map Is Unveiled, Years After Earlier Effort

The map sets the stage for new discoveries about human evolution and health.

How the Human Genome Project revolutionised biology

By the late 1980s biologists were gaining confidence that the next century would belong to them. Biotechnology—the ability to tweak dna itself to make useful products—was taking wing. The number of biologists in training was booming.

Human genome editing offers tantalizing possibilities – but without clear guidelines, many ethical questions still remain

The potential for positive applications of human genome editing is both numerous and tantalizing. But establishing informed regulatory legislation everyone can agree on is and will continue to be a challenge.

Human Genome, Then and Now

Eight years of work, thousands of researchers around the world, $1 billion spent — and finally it was done. On April 14, 2003, a decade ago this week, scientists announced that they had completed the Human Genome Project, compiling a list of the three billion letters of genetic code that make up what they considered to be a sort of everyperson’s DNA.

Michael Schatz, Karen Miga, Evan Eichler, and Adam Phillippy

Ever since the draft of the human genome became available in 2001, there has been a nagging question about the genome’s “dark matter”—the parts of the map that were missed the first time through, and what they contained. Now, thanks to Adam Phillippy, Karen Miga, Evan Eichler, Michael Schatz, and the entire Telomere-to-Telomere Consortium (T2T) of scientists that they led, we can see the full map of the human genomic landscape—and there’s much to explore.

Now That We Can Read Genomes, Can We Write Them?

A group of scientists is pushing ahead with plans to build whole genomes—including human ones—from scratch.

Scientists sequence Beethoven's genome for clues into his painful past

Ludwig van Beethoven lived a life of pain. His suffering was so great that in 1802 — while only in his early 30's — the classical composer and pianist penned a letter to his brothers describing how his maladies had soured his demeanor and isolated him from society. In this message, known as the Heiligenstadt Testament, Beethoven asked that the physical ailments that plagued him in life be publicized after his death.

The Doctor Will See Your Genome Now

lWill whole-genome sequencing create a new liability tsunami for physicians?

The First Pair of Complete Woolly Mammoth Genomes Is a Big Boost for Cloners

Cloning a mammoth is something we could “realize within decades."

The Human Genome “Rosetta Stone” and The Future of Health

One person’s junk is another person’s treasure. Sometimes it’s even true in science. Nearly 20 years ago, researchers said they had completed a groundbreaking project, sequencing the human genome. But they were missing about 8%. Some researchers at the time called the missing pieces “junk.” Still, a team of about 100 researchers kept going and has now finished a truly complete sequence. It’s a genomic “Rosetta Stone,” a reference guide capable of revealing what makes humans, human.

There’s a Mystery Machine That Sculpts the Human Genome

Geneticists can’t see this machine, but they can see its works—and they say it might be the key to reshaping the genome.

What we might learn about embryos and evolution from the most complete human genome map yet

Newly sequenced, repetitive DNA plays a poorly understood yet foundational role in biology.

Resources

20 years after the human genome was first sequenced, dangerous gene myths abound

Misleading rhetoric has fuelled the belief that our genetic code is an ‘instruction book’ – but it’s far more interesting than that.

National Human Genome Research Institute

National Human Genome Research Institute (NHGRI) is the driving force for advancing genomics research at the National Institutes of Health (NIH), the largest biomedical research agency in the world.

The Human Genome Project

The Human Genome Project is one of the greatest scientific feats in history. The project was a voyage of biological discovery led by an international group of researchers looking to comprehensively study all of the DNA (known as a genome) of a select set of organisms. Launched in October 1990 and completed in April 2003, the Human Genome Project’s signature accomplishment – generating the first sequence of the human genome – provided fundamental information about the human blueprint, which has since accelerated the study of human biology and improved the practice of medicine.