The Segway encyclopedia

Credit: Wiley

Summary of the article A unified encyclopedia of human functional DNA elements through fully automated annotation of 164 human cell types. Maxwell W Libbrecht, Oscar L Rodriguez, Zhiping Weng, Jeffrey A Bilmes, Michael M Hoffman, William Stafford Noble  Genome Biol PMID: 31462275 2019 Aug 28;20(1):180. doi: 10.1186/s13059-019-1784-2. PMCID: PMC6714098

The human genome, known as DNA, contains many areas whose functions are unknown. Genome annotation is the process of identifying and characterizing functional areas along the DNA sequence. Several methods exist to perform genome annotation, most of which are semi-automated.

This study focused on the development of a fully automated annotation strategy. With this strategy, the researchers automatically grouped regions of the genome into functional categories and developed a way to assign a score to each group based on its evolutionary conservation. 

With this strategy, the researchers automatically annotated a massive collection of publicly available genomic data. The resulting annotations formed an encyclopedia, known as the Segway encyclopedia, that catalogs all human regulatory elements in the genome per cell type.

This encyclopedia is useful for researchers and clinicians interested in understanding, for example, what cell type is most relevant to a particular disease-associated DNA variant.