ACMD Seminar: NPGREAT: Assembling the human telomeres and subtelomeres with the use of ultralong Nanopore and Linked-Read datasets

Eleni Adam
Ph.D. Candidate, Computer Science Dept., Old Dominion University

Tuesday, November 1, 2022, 3:00-4:00 EDT (1:00-2:00 MDT)

A video of this talk is available to NIST staff in the Math channel on NISTube, which is accessible from the NIST internal home page.

Abstract: The telomeres are the protective caps of the chromosomes. Genomic rearrangements in telomeric regions can result in the dysfunction of the telomeres and subsequently to a wide range of diseases. These regions contain highly repetitive and complex sequence structures. This makes their accurate assembly and analysis quite difficult. In this talk, we present a hybrid assembly method and associated software tool NPGREAT (NanoPore Guided Regional Assembly Tool) to overcome this problem. NPGREAT utilizes two types of data, ultralong Nanopore reads and Linked-Reads to successfully obtain a high-quality assembly of the human subtelomeric regions.

Bio: Eleni Adam is a PhD candidate in Computer Science at Old Dominion University in Norfolk, Virginia. She received her undergraduate degree in Computer Engineering from University of Thessaly in Greece. Her current research is in the area of Bioinformatics. She is primarily interested in development of efficient algorithms and software tools that make use of high-performance computing resources (like parallel computing clusters) to enable the analysis of genomic and other types of biological data. Apart from NPGREAT, during her doctoral program, she has also developed a software tool (hummingbird) for detection of differentially methylated regions in whole genomes which is more accurate and significantly faster than previous methods.

Host: Brian D. Cloteaux

Note: This talk will be recorded to provide access to NIST staff and associates who could not be present to the time of the seminar. The recording will be made available in the Math channel on NISTube, which is accessible only on the NIST internal network. This recording could be released to the public through a Freedom of Information Act (FOIA) request. Do not discuss or visually present any sensitive (CUI/PII/BII) material. Ensure that no inappropriate material or any minors are contained within the background of any recording. (To facilitate this, we request that cameras of attendees are muted except when asking questions.)

Note: Visitors from outside NIST must contact Lochi Orr (301) 975-3800; at least 24 hours in advance.