| Description: | [DBS talk] Tanmoy Roychowdhury (Department of Internal medicine, Cardiology University of Michigan, Ann arbor, MI, USA) -- Peeking into the biography of genomic mutation in omics era |
| Date: | Tuesday, Feb 04, 2020 |
| Time: | 3 p.m. - 4 p.m. |
| Venue: | Asima Chatterjee Lecture Theatre |
| Details: | Low cost and massively parallel sequencing technologies have revolutionized the area of genomics research in last two decades. Large scale discoveries have allowed understanding of origin and function of genomic mutations. During this talk, I will tell two such stories: 1) Structural variations in the human genome originate from different mechanisms related to DNA repair, replication, and retro-transposition. Analyses were performed to understand how chromatin organization and/or epigenome affects origin of structural variations in human genome. Several evidences suggested that majority of non-allelic homologous deletions are non-meiotic (non-classical) i.e. originate during homology directed repair of spontaneous DNA double-stranded breaks. This study also indicated a potential beneficial role of repetitive elements in the human genome. 2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. Organoids from human pluripotent cells can be used to model cerebral cortical development. A multi-omics analysis revealed differentially active genes and enhancers during cortical development. Networks of converging gene and enhancer modules were assembled into six and four global patterns of expression and activity across time. Few such modules were enriched in autism-associated genes and genomic variants in autistic children. This study indicated a role of non-coding mutations in autism etiology. |
| Calendar: | Seminar Calendar (entered by arnab.gupta) |