Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

A decade on from the launch of an ambitious project, it’s time to revisit the reasons for constructing a human genome from ...

This activity was supported by Contract No. HHSN263201800029I / Order No. 75N98019F00852 from the U.S. National Institutes of Health, Grant No. 2019 HTH 009 from the Rockefeller Foundation, and Grant ...

The genome is the complete set of DNA within a cell, encompassing protein-coding genes, non-coding elements and vast tracts of intergenic sequence. In eukaryotes, this information is packaged into ...

DNA doesn’t just sit still inside our cells — it folds, loops, and rearranges in ways that shape how genes behave. Researchers have now mapped this hidden architecture in unprecedented detail, showing ...

Modern humans descended from not one, but at least two ancestral populations that drifted apart and later reconnected, long before modern humans spread across the globe. Using advanced analysis based ...

What made us human? Our genome provides answers. The human genome was completely sequenced by scientists in 2000, ...

A research team led by Zhen-Xing Endowed Professor Jian Yang at the School of Life Sciences, Westlake University, has developed a pangenome-informed genome assembly (PIGA) method. By combining a ...

Veronica Paulus is a former STAT intern supported by the Harvard University Institute of Politics. Complex regions of the human genome remained uncharted, even after researchers sequenced the genome ...

Genes make us who we are—but are they shaped by chance, natural selection, or something else?

The Indigenous peoples of the Bolivian highlands are survivors. For thousands of years they have lived at altitudes of more than two miles, where oxygen is about 35 percent lower than at sea level.