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 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 ...

The epigenome of a cell is tightly correlated with gene transcription, which controls cell identity and diverse biological activities. Recent advances in spatial technologies have improved our ...

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.