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PRBB Computational Genomics Seminars Beatrice Borsari

PRBB Computational Genomics Seminars Beatrice BorsariPRBB Computational Genomics Seminars Beatrice Borsari

06/05/2021
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PRBB Computational Genomics Seminars Beatrice Borsari

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06/05/202112:00OnlinePRBB Computational Genomics SeminarsBeatrice BorsariComputational Biology of RNA Processing (Guigo's lab, CRG)The EN-TEx project: Multi-tissue integrative analysis of personal epigenomeHost: Garrido Enamorado, RominaAbstract:
click the link below to join the webinar:
https://us02web.zoom.us/j/81073249721
Password: 788137

Abstract:
Evaluating the impact of genetic variants on transcriptional regulation is a central goal in biological science that has been constrained by reliance on a single reference genome. To address this, we constructed phased, diploid genomes for four cadaveric donors (using long-read sequencing) and systematically charted noncoding regulatory elements and transcriptional activity across more than 25 tissues from these donors. Integrative analysis revealed over a million variants with allele-specific activity, coordinated, locus-scale allelic imbalances, and structural variants impacting proximal chromatin structure. We relate the personal genome analysis to the ENCODE encyclopedia, annotating allele- and tissue-specific elements that are strongly enriched for variants impacting expression and disease phenotypes.
These experimental and statistical approaches, and the corresponding EN-TEx resource, provide a framework for personalized functional genomics.