Some scientists are not yet convinced that the list is accurate.

Three members of a gene family called NOTCH2NL may have been involved in the evolution of humans’ big cortex.

Humans living in higher latitudes tend to have a variant of a gene involved in sensing cold temperatures, but it comes with a cost.  

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

The adaptation gives better endurance to the Bajau people, known as sea nomads, by increasing spleen size and, in turn, boosting the number of oxygenated red blood cells when diving.  

“Cheddar Man” had dark hair and blue eyes, a sequencing analysis suggests.

The use of underperforming computational tools is a major offender in science’s reproducibility crisis—and there’s growing momentum to avoid it.

Three studies—one of mice and two of human genetics—describe the role of two proteins, adenylyl cyclase and melanocortin 4 receptor, in the development of obesity and diabetes. 

The genome of an infant who lived in Alaska thousands of years ago represents a previously unknown group of humans called Ancient Beringians, who share a common lineage with other Native Americans. 

Combined transcription and genome data from multiple tissues in hundreds of human donors reveal links between genotype and gene expression across the body.