Microcephaly is a congenital malformation that leads to a significantly reduced brain size and is often accompanied by developmental delay.

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 ...

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 ...

This event discusses the framing of “choice” in embryo screening and highlights restorative innovations in genuine treatment and care. From polygenic testing to regenerative cell therapies, ...

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