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SUMMARY:Mastoras\, M. (BMEB) - Polishing genome assemblies and leveraging their improved quality to study centromere variation
DESCRIPTION:A complete and accurate genome reconstruction serves as the foundation for studying an organism’s biology and the mechanisms underlying disease. It is particularly critical for reference genomes\, which provide a universal coordinate system for downstream genomic analysis. Errors or missing sequences in a reference genome create bias in all of the studies built on top of them. The Human Pangenome Reference Consortium (HPRC) seeks to address this bias by transitioning the field to a pangenome reference\, a graph based collection of many genome assemblies\, providing a better representation of variation in the human population. Removing errors in the HPRC assemblies is critical to ensure the pangenome serves as a robust standard for genomic variant discovery. In the first part of my thesis\, I improve the base level accuracy of the HPRC release 2 assemblies (HPRC2) with a machine learning model for assembly polishing called DeepPolisher. Next\, I make additional contributions to reference-based genomic analysis by polishing reference genomes of other model organisms\, and helping to develop a new method for de-novo assembly and variant calling from a single-flow cell nanopore sequencing protocol. Finally\, I take advantage of the highly accurate\, near complete assemblies from HPRC2 that I improved with DeepPolisher to study a region only recently made accessible to genomics analysis: the human centromere. I apply the tool Centrolign\, the first ever multiple-sequence-aligner for centromeres to the HPRC2 assemblies\, establishing precise estimates of mutation rates and spatial variation patterns across centromeric arrays. \nEvent Host: Mira Mastoras\, Ph.D. Candidate\, Biomolecular Engineering & Bioinformatics \nAdvisor: Benedict Paten \nZoom: https://ucsc.zoom.us/j/98960011053?pwd=mFKCwtSIhvT5FvEURbE85lRbbMvzuo.1 \nPasscode: 118488
URL:https://live-events-ucsc.pantheonsite.io/event/mastoras-m-bmeb-polishing-genome-assemblies-and-leveraging-their-improved-quality-to-study-centromere-variation/
LOCATION:Physical Sciences Building\, Physical Sciences Building\, Santa Cruz\, CA\, 95064
CATEGORIES:Ph.D. Presentations
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DTSTART;TZID=America/Los_Angeles:20261106T130000
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SUMMARY:23rd Annual Graduate Research Symposium
DESCRIPTION:This event celebrates and highlights the work of UCSC graduate students in all academic divisions. Any enrolled graduate student is welcome to present either a poster\, talk\, or mixed media presentation. The event is free and open to the public.
URL:https://live-events-ucsc.pantheonsite.io/event/23rd-annual-graduate-research-symposium/
LOCATION:Physical Sciences Building\, Physical Sciences Building\, Santa Cruz\, CA\, 95064
CATEGORIES:Lectures & Presentations
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