In the News

A Complete Human Genome!

Hear from Telomere to Telomere consortium co-lead Karen Miga what this accomplishment means. 

Matthew Agius | Cosmos| August 24, 2023

The Y chromosome has been fully decoded for the first time, giving science its greatest genetic insight into how it influences the development of males and potential health issues that arise during their lives.

More than 100 scientists around the world contributed to the study led by the US National Human Genome Research Institute and published today in the journal Nature. Within their research is the full sequence of Y chromosome DNA... Read more.

Will Dunham | Reuters | August 23, 2023

Scientists have taken an important step forward in understanding the human genome - our genetic blueprint - by fully deciphering the enigmatic Y chromosome present in males, an achievement that could help guide research on infertility in men.

Researchers on Wednesday unveiled the first complete sequence of the human Y chromosome, which is one of the two sex chromosomes - the X chromosome being the other... Read more.

New Scientist | August 23, 2023

Twenty years after the Human Genome Project was declared complete, the Y chromosome has been fully sequenced for the first time.

Most people have 22 pairs of chromosomes plus two sex chromosomes – either a pair of X chromosomes or one X and one Y chromosome. Having a Y usually – but not always – results in an embryo developing male characteristics... Read more.

Large Scientific Collaborations Aim to Complete Human Genome

Brianna Chrisman and Jordan Eizenga | The Scientist | September 1, 2022

He has the most studied genome of any person, but many researchers have never even considered the fact that he exists. His identity is unknown, and he is largely unremarkable, biologically speaking. Instead, his significance to genomics stems...Read more.

Scientists Release The First Fully Complete Human Genome

Science Friday | April 1, 2022

Two decades ago, scientists announced they had sequenced the human genome. What you might not know is that there were gaps in that original sequence—about 8% was completely blank. 

Now, after a years-long global collaboration, scientists have finally released the first fully complete assembly of the human genome. Researchers believe these missing pieces might be the key to understanding how DNA varies between people.... Read more.

Image from the National Human Genome Research Institute

Scientists complete sequencing of human genome in huge research advance

Erin Allday | San Francisco Chronicle | March 31, 2022

An international team of scientists, led by geneticists at UC Santa Cruz and the National Institutes of Health, has published the first truly complete human genome, a dramatic advance in understanding the role of genetics in disease and evolution that closes the last gaps in cataloging the three billion paired molecules that make up our DNA.

The full genetic sequence — first reported last summer, but officially unveiled in the journal Science on... Read more.

A human genome has finally, fully been decoded

Evan Bush | NBC News | March 31, 2022

Mission accomplished — or close enough, anyway. 

That was the message scientists sent to the world in 2003 when they announced that the human genome had been sequenced, assembled and was essentially complete — with a few seemingly minor gaps

In reality, the effort to quantify and identify the genetic code that makes us all human, which cost the U.S. government billions of dollars, remained a rough draft and at least 8 percent short of being finished.... Read more.

Image from Ernesto Del Aguila III/National Institutes of Health

First complete, gapless sequence of a human genome reveals hidden regions

Tim Stephens | UCSC | March 31, 2022

The first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy, is now accessible through the UCSC Genome Browser and is described in six papers published March 31 in Science.... Read more.

Most complete human genome yet reveals previously indecipherable DNA

Elizabeth Pennisi | Science | March 31, 2022

When it comes to sequencing the human genome, “complete” has always been a relative term. The first one, deciphered 20 years ago, included most of the regions that code for proteins but left about 200 million bases of DNA—8% of the human genome—untouched. Even as additional genomes were “finished,” some stretches remained out of reach, because repetitive segments of...Read more.

Image from Tamara Potapova and Jennifer Gerton/Stowers Institute for Medical Research

What Does Full Sequencing of the Human Genome Mean for Health?

Damian McNamara | WebMD | April 7, 2022

While scientists celebrate putting together the last pieces of the human genome – a major accomplishment decades in the making – the rest of us are left wondering what this breakthrough could mean for our own health and well-being.... Read more.

Good news, they've sequenced, fully sequenced, the human genome.

BBC | April 2, 2022

Karen Miga discusses the completion of the human genome on BBC's The Science Hour. Tune in at 17:35 to hear her segment.

Image from Mario Tama/Getty Images

Scientists sequence complete, gap-free human genome for the first time

CBC Radio | April 1, 2022

When the human genome was first sequenced over 20 years ago, it was a huge scientific feat, often compared to the significance of the discovery of penicillin, or putting a man on the moon.

But that genome unveiled back then was only about 92% complete. There were significant gaps where researchers hadn't been able to reconstruct some of the more complex parts of our DNA.... Read more.

Complete human genome sequence reveals new genetic variants linked to disease

Amy Barrett | Science Focus | April 1, 2022

For the first time, scientists have been able to sequence the complete human genome, revealing never-before-seen regions of DNA that code for things like muscular dystrophy, some cancers, and even our big brains.... Read more.

Image from Mario Tama/Getty Images

Researchers Generate the First Complete Sequence of a Human Genome

Press Association | Bloomberg | March 31, 2022

Two decades after the first draft was produced, researchers have published the first complete gapless sequence of a human genome – the blueprint of our DNA.

Scientists say having a complete, gap-free sequence of the roughly three billion letters in our DNA is important for understanding genetic diseases, human diversity and evolution.... Read more.

The Human Genome Is Finally Fully Sequenced

Alice Park | Time | March 31, 2022

The first human genome was mapped in 2001 as part of the Human Genome Project, but researchers knew it was neither complete nor completely accurate. Now, scientists have produced the most completely sequenced human genome to date, filling in gaps and correcting mistakes in the previous version....Read more.

Image from Getty Images

The first complete sequence of a human genome marks a new era for science

Manuel Ansede | El País | March 31, 2022

A human being’s instruction manual is written into each one of its cells, in a DNA molecule that, unfolded, measures some two meters long and contains the instructions to transmit a thought, perform a dance, or sing a song. The first complete reading of a person’s DNA – their genome – has revealed an unknown world of redundant sequences. It goes against intuition, but these repeated sections of the DNA of a human being help them to be unique.... Read More.

The map of our DNA is finally complete. Here's what that means for humanity.

Karen Weintraub | USA TODAY | March 31, 2022

Scientists are finally done mapping the human genome, more than two decades after the first draft was completed, researchers announced Thursday. About 8% of genetic material had been... Read more.

Image from the National Human Genome Research Institute

First complete gap-free human genome sequence published

Hannah Devlin | The Guardian | March 31, 2022

More than two decades after the draft human genome was celebrated as a scientific milestone, scientists have finally finished the job. The first complete, gap-free sequence of a human genome has been published in an advance expected to pave the way for new insights into health and what makes our species unique.

Dr Karen Miga, a scientist at the University of California, Santa Cruz who co-led the... Read more.

Human blueprint breakthrough: Scientists finally publish ‘gapless’ human genome

Joel Achenbach | The Washington Post | March 31, 2022

An important detail went largely unnoticed amid the celebrations two decades ago of the mapping of the human genome: The job wasn’t really done. The historic sequencing of the roughly 3 billion letters that represent the blueprint of humans was only about 92 percent complete.

Scientists had done all they could do with the technology of the day, and soon after the turn of the... Read more.

Image from Evan Vucci/The Associated Press
Image from Ernesto Del Aguila III/National Institutes of Health

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

Amy Marcus | The Wall Street Journal | March 31, 2022

Scientists have unveiled what they call the first truly complete map of a human genome, filling in significant gaps that persisted for almost 20 years and setting the stage for new discoveries about human evolution and fresh insights into cancer, birth defects and aging.... Read more.

Complete Human Genome Sequenced for First Time In Major Breakthrough

Becky Ferreira | VICE | March 31, 2022

Scientists have mapped an entire unbroken human genome for the first time, a milestone that completes the groundbreaking work started by the Human Genome Project decades ago, according to a motherlode of new studies published in Science and other journals on Thursday....Read more.

Image from Getty Images
Image from Andrew Syred/Science Source

Completing the Human Genome Sequence (Again)

Eric Green | Scientific American | March 31, 2022

A fundamental characteristic of the field of genomics is aspiring to be comprehensive. After all, genomics is the study of all of an organism’s DNA: its genome.

Scientists in the Telomere-to-Telomere (T2T) consortium have now reported the first truly complete sequence of a human genome, nearly two decades after the Human Genome Project produced the first (essentially complete) human genome sequence. People may wonder how it is that scientists are claiming to complete the... Read more.

Researchers generate the first complete, gapless sequence of a human genome

Prabarna Ganguly | NHGRI | March 31, 2022

Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.... Read more.

Seven technologies to watch in 2022

Michael Eisenstein | Nature | January 25, 2022

Roughly one-tenth of the human genome remained uncharted when genomics researchers Karen Miga at the University of California, Santa Cruz, and Adam Phillippy at the National Human Genome Research Institute in Bethesda, Maryland, launched the Telomere-to-Telomere (T2T) consortium... Read more.

Telomere-To-Telomere Consortium Shares Insights From Gapless Human Genome at ASHG

Andrew P. Han | GenomeWeb | October 20, 2021

Researchers from the Telomere-To-Telomere Consortium shared the first insights from analyzing the gapless human complete hydatidiform mole genome assembly this week at the American Society of Human Genetics annual meeting, held virtually.

The assembly, which was first released as a preprint earlier this year, includes more information than initially thought, with about 200 Mb... Read more.

Karen Miga Fills In the Missing Pieces of Our Genome

Genetic Engineering and Biotechnology News | April 9, 2021

In 1990, an international team of scientists began an ambitious attempt to sequence the human genome. By 2001 the Human Genome Project (HGP) had prepared a rough draft, and in April 2003, the draft sequence was declared finished. But Karen Miga, a geneticist... Read more.

Scientists Finish the Human Genome at Last

Carl Zimmer | The New York Times | July 23, 2021

Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA. Read more.

First Complete Autosome Sequenced: Chromosome 8 Assembly Fills in Gaps, Offers Evolutionary Clues

Genetic Engineering and Biotechnology News | April 9, 2021

The first, complete, telomere-to-telomere sequence of a human autosome has been completed. The sequence of chromosome 8 not only fills in the gap of more than three million bases missing from the current reference genome, but its DNA content and arrangement are of interest in an evolutionary context, in several immune and... Read more.

Scientists achieve first complete assembly of human X chromosome

Tim Stephens | UCSC | July 14, 2020

The first end-to-end (‘telomere-to-telomere’) completely gapless DNA sequence of a human chromosome is a major milestone for genomics research. Read more.

Completing the human genome sequence

National Human  Genome Research Institute

The Human Genome Project ended in 2003, but genomic researchers had not yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the sequence at that time. Why did they stop there? Read more.