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 ...

The three-dimensional (3D) organization of cis-regulatory elements (CREs) is critical in transcription control. However, capturing transcriptome, epigenome and 3D genome from the same single cells ...