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Illustration showing assembly Versus Alignment
Infographic: The Sequencing and Assembly of the Human Genome
With ever-advancing genetic technologies, researchers continue to document the genetic code of the human species.
Infographic: The Sequencing and Assembly of the Human Genome
Infographic: The Sequencing and Assembly of the Human Genome

With ever-advancing genetic technologies, researchers continue to document the genetic code of the human species.

With ever-advancing genetic technologies, researchers continue to document the genetic code of the human species.

Human Genome Project

Illustration showing a puzzle piece of DNA being removed
Large Scientific Collaborations Aim to Complete Human Genome
Brianna Chrisman and Jordan Eizenga | Sep 1, 2022 | 10+ min read
Thirty years out from the start of the Human Genome Project, researchers have finally finished sequencing the full 3 billion bases of a person’s genetic code. But even a complete reference genome has its shortcomings.
Deborah Nickerson
Genome Pioneer Deborah Nickerson Dies at 67
Amanda Heidt | Feb 9, 2022 | 3 min read
The University of Washington researcher leveraged data from the Human Genome Project to identify genes underlying various health conditions and advance precision medicine.
Man in black suit looking at camera
Pioneering Geneticist C. Thomas Caskey Dies at 83
Natalia Mesa, PhD | Jan 28, 2022 | 3 min read
Caskey’s contributions to the field were instrumental to modern genetics.
NIH Director Francis Collins receiving his first dose of the Moderna COVID-19 vaccine on December 2020.
Francis Collins to Retire as NIH Director by Year’s End
Christie Wilcox, PhD | Oct 5, 2021 | 3 min read
Collins has announced his intent to step down after leading the National Institutes of Health for more than 12 years.
Blue-toned illustration of the DNA double helix, with additional DNA strands in the background
Nearly Complete Human Genome Sequenced
Jef Akst | Jun 8, 2021 | 2 min read
In a preprint, researchers fill in some of the holes left in the first draft of the human genetic code, published at the turn of the century.
human reference genome genetics sweden
Human Reference Genome Doesn’t Capture Full Genetic Diversity
Katarina Zimmer | Oct 1, 2019 | 4 min read
A new analysis of 1,000 Swedes uncovers a chromosome’s worth of novel DNA sequences—much of them ancient—underscoring the need for a more diverse reference genome.
Opinion: Greater Diversity Is Needed in Human Genomic Data
Charles Lee | Sep 1, 2019 | 5 min read
Researchers must ensure that the inequality seen in most of today’s genomic studies and databases is corrected.
John Sulston, Human Genome Project Leader, Dies
Kerry Grens | Mar 11, 2018 | 2 min read
The biologist earned a Nobel Prize in 2002 for his work on C. elegans.
“Human Genome Project-Write” Unveiled
Jef Akst | Jun 2, 2016 | 1 min read
A proposal to synthesize entire genomes—the subject of a controversial, invitation-only meeting at Harvard last month—is formally presented in Science.
Secret Genome Meeting
Jef Akst | May 16, 2016 | 2 min read
A closed-door gathering at Harvard last week hosted researchers talking about synthesizing entire genomes, including that of humans. 
Life After Sequencing
Eva Amsen | Feb 1, 2016 | 4 min read
Fifteen years after publication of the human genome’s first draft sequence, what has become of the hundreds of researchers who worked on the project?
Illuminating the Interactome
Molly Sharlach | Nov 20, 2014 | 3 min read
A massive screen yields the most comprehensive map of binary human protein interactions to date.
Human Gene Set Shrinks Again
Jyoti Madhusoodanan | Jul 8, 2014 | 2 min read
Proteomic data suggest the human genome may encode fewer than 20,000 genes.
Genome Digest
Jyoti Madhusoodanan | Jun 30, 2014 | 4 min read
What researchers are learning as they sequence, map, and decode species’ genomes
Sharing the Wealth
Jef Akst | May 1, 2014 | 9 min read
From research results to electronic health records, biomedical data are becoming increasingly accessible. How can scientists best capitalize on the information deluge?
Genome Update
Tracy Vence | Jan 2, 2014 | 1 min read
Scientists present the first major human genome assembly update since 2009.
Genomics Investment Boosts US Economy
Dan Cossins | Jun 13, 2013 | 2 min read
A new analysis suggests that the Human Genome Project has delivered $178 for every federal dollar invested, but many analysts are not convinced by the figures.
Opinion: The Payoff of Big Science
K. John Morrow Jr. | Jun 3, 2013 | 4 min read
Was the Human Genome Project the key to a gold mine?
The Road Less Traveled
Megan Scudellari | Nov 1, 2012 | 9 min read
First, Aravinda Chakravarti drew a map of how scientists might unravel the genetics of complex disease. Then he blazed the trail.
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