For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

Explore the decades-long journey to map the full human genome, from early breakthroughs to the first complete, gapless DNA ...

Using STING-seq, short for systematic targeting and inhibition of noncoding GWAS loci with single cell sequencing, Sanjana and his team identified promising sequence variants linked to various ...

This is a preview. Log in through your library . Abstract Loss of the fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS). FMRP is widely thought to repress protein synthesis, ...

Scientists have found new genetic causes for diabetes in babies—in a part of the genome that has historically been overlooked ...

Late in 2025, we covered the development of an AI system called Evo that was trained on massive numbers of bacterial genomes. So many that, when prompted with sequences from a cluster of related genes ...