Human Genome Project, genetics & genomics

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.

Caskey’s contributions to the field were instrumental to modern genetics.

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.

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.

Researchers must ensure that the inequality seen in most of today’s genomic studies and databases is corrected.

The biologist earned a Nobel Prize in 2002 for his work on C. elegans.

A proposal to synthesize entire genomes—the subject of a controversial, invitation-only meeting at Harvard last month—is formally presented in Science.

A closed-door gathering at Harvard last week hosted researchers talking about synthesizing entire genomes, including that of humans. 

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?

Proteomic data suggest the human genome may encode fewer than 20,000 genes.

From research results to electronic health records, biomedical data are becoming increasingly accessible. How can scientists best capitalize on the information deluge?

Scientists present the first major human genome assembly update since 2009.

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.

Was the Human Genome Project the key to a gold mine?

First, Aravinda Chakravarti drew a map of how scientists might unravel the genetics of complex disease. Then he blazed the trail.

Inspired by Darwin, Mohamed Noor has uncovered the molecular dance by which a single species becomes two.

New research suggests that the average person has about 20 genes with loss-of-function mutations—many more than previously suspected.

An early advocate of the sequencing of the human genome reflects on his own predictions from 1986.

Twenty-five years later, the magazine is still hitting many of the same key discussion points of science.