Unravelling the cell-type specific roles of disease-associated mutations in the noncoding regulatory genome
APA
(2024). Unravelling the cell-type specific roles of disease-associated mutations in the noncoding regulatory genome. SciVideos. https://youtube.com/live/oCHSKUaq6Sc
MLA
Unravelling the cell-type specific roles of disease-associated mutations in the noncoding regulatory genome. SciVideos, Sep. 15, 2024, https://youtube.com/live/oCHSKUaq6Sc
BibTex
@misc{ scivideos_ICTS:29620, doi = {}, url = {https://youtube.com/live/oCHSKUaq6Sc}, author = {}, keywords = {}, language = {en}, title = {Unravelling the cell-type specific roles of disease-associated mutations in the noncoding regulatory genome}, publisher = {}, year = {2024}, month = {sep}, note = {ICTS:29620 see, \url{https://scivideos.org/icts-tifr/29620}} }
Abstract
The vast majority (~98%) of the mammalian genome is noncoding but has a vital role in gene regulation. Enhancers are noncoding DNA sequences highly enriched in binding sites for tissue-specific transcription factors. Genes with pleiotropic roles in development often have huge regulatory landscapes (~ 1Mb) with multiple enhancers driving precise gene expression.
The human genome is thought to contain 100s of thousands of enhancers with, as yet, uncharacterised activities and a large proportion of disease-causing and disease-predisposing DNA sequence variants map to potential enhancers. To advance understanding of human disease, massive efforts are currently being directed towards establishing genotype to phenotype correlations for sequence variants. A key pre-requisite to these analyses is defining the precise cell- and tissue-specific activities of the enhancers and the transcription factors that bind them.
Our research focuses on building models for understanding cell-type specific ...