BEGIN:VCALENDAR VERSION:2.0 CALSCALE:GREGORIAN PRODID:iCalendar-Ruby BEGIN:VEVENT CATEGORIES:Lectures & Presentations DESCRIPTION:MCB Seminar | Mahima Sanyal on Sept. 28\n\nThe Molecular and Ce llular Biology Seminar series features Mahima Sanyal on Sept. 28 from 4:35 to 5:55 p.m.\n\nContact Dr. Sarah Wyatt\, MCB director\, for more informati on. \n\nSanyal is a graduate student in Biological Sciences and Molecular C ellular Biology.\n\n \n\nAbstract: The first observations that different hu man genomes showed variations were found to be due to the rare changes in t he quantity and structure of the chromosomes1. Now\, the 1000 Genomes Proje ct has elucidated nearly 88 million variants in healthy individuals2. Struc tural variants are a class of genomic DNA alterations that arise from proce sses like insertion\, deletion\, inversion\, duplication\, and translocatio n which may possibly lead to copy number changes3. Advances in Next Generat ion Sequencing have resulted in a torrential development of new algorithms that cater to detect the increasing complexity of variations in different g enomes4. Development of genome graphs is a new in silico approach which cre ates a map of chromosomal segments that result in structural variation5. Pr evious methods of detection like paired-end mapping and split-read based ap proaches depend on using existing knowledge and suffer disadvantages of low resolution and high false negatives in regions with high genomic repeats4. To overcome the drawbacks\, methods like read depth-based and combinatoria l approaches have been designed to detect novel variants4. The latter metho ds have formed the basis of genome graphs. Identification of genome rearran gements is crucial for predicting pathogenesis like cancer and Parkinsons1. Even though methods of structural variant detection have become routine\, classification of variants do not have a clear approach resulting in the in ability to accurately attribute genomic alterations to any phenotype or pat hogenesis. To address this\, Hadi et al.5 have developed a tool “Jabba” tha t uses genome graphs to create distinct representations of structural varia nt groups across thousands of cancer genomes. Improved methods to detect an d classify chromosomal structural variants can aid in understanding how gen omes evolve\, providing better means of prediction of disease occurrence an d progression.\n\nReferences\n\n1.Alkan\, C.\, Coe\, B. P. & Eichler\, E. E . Genome structural variation discovery and genotyping. Nat Rev Genet 12\, 363–376 (2011).\n\n2.Auton\, A. et al. A global reference for human genetic variation. Nature 526\, 68–74 (2015).\n\n3.Freeman\, J. L. et al. Copy num ber variation: New insights in genome diversity. Genome Res. 16\, 949–961 ( 2006).\n\n4.Zhao\, M.\, Wang\, Q.\, Wang\, Q.\, Jia\, P. & Zhao\, Z. Comput ational tools for copy number variation (CNV) detection using next-generati on sequencing data: features and perspectives. BMC Bioinformatics 14\, S1 ( 2013).\n\n5.Hadi\, K. et al. Distinct Classes of Complex Structural Variati on Uncovered across Thousands of Cancer Genome Graphs. Cell 183\, 197-210.e 32 (2020). DTEND:20210928T215500Z DTSTAMP:20241126T221435Z DTSTART:20210928T203500Z LOCATION: SEQUENCE:0 SUMMARY:MCB Seminar | Connecting Genomes: Classification of Structural Vari ants through Genome Graphs\, Sept. 28 UID:tag:localist.com\,2008:EventInstance_37775888487522 URL:https://calendar.ohio.edu/event/mcb_seminar_mahima_sanyal_on_sept_28 END:VEVENT END:VCALENDAR