ICTS:29620

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}}
          }
          
Shipra Bhatia
Talk numberICTS: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 ...