At the turn of the century, the biomedical research community saw a landmark global effort, when scientists built a reference human genome sequence to better understand the genes underlying health and ...

The origin of many diseases begins at the cellular level and involves multiple molecular interactions. However, previous methods have struggled to accurately observe changes in individual cells.

The diagnosis of Mendelian conditions is challenged by the ability to detect pathogenic genetic variation accurately and to determine whether an identified genetic variant has a functional consequence ...

Our ability to edit genomes lags behind our capacity to sequence them, but the growing understanding of CRISPR biology and its application to genome, epigenome and transcriptome engineering is ...