Investigating context-specific genetic associations can lead to deeper understanding of the biological mechanisms underlying human traits. With this cross-journal Collection, the editors at Nature ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...

The first complete draft of the human genome was published back in 2003. Since then, researchers have worked both to improve the accuracy of human genetic data, and to expand its diversity, looking at ...

Scientists at deCODE genetics/Amgen have constructed a complete map of how human DNA is mixed as it is passed down during reproduction. The map marks a major step in the understanding of genetic ...

Credible press are invited to join the American Society of Human Genetics in Boston for the ASHG 2025 Annual Meeting.

Boston Children's Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours. This ...