On October 27-30, ASHG members and leading scientists worldwide presented their research findings to the American Society of Human Genetics (ASHG) 2020 Virtual Meeting. Among them were several Penn Neurodegeneration Genomics Center (PNGC) members who had the opportunity to learn from and share their latest updates with the genetics and genomics research community.
Pavel Kuksa, PhD, a research associate at PNGC, presented his work on “FILER: Integrated, large-scale Functional genomics repository.” Dr. Kuksa’s presentation highlighted and addressed the lack of a unified resource that can provide consolidated and streamlined access to functional genomics data and annotations. As such, Dr. Kuska developed the FunctIonaL gEnomics Repository (FILER). FILER is the most comprehensive harmonized, extensible, indexed, searchable human functional genomics data collection across >20 data sources. It provides one place to access all data via query by tissue/cell type, biosample type, assay, data type, data collection.
Along with Dr. Kuska, PNGC members Heather Issen and web developer Conor Klamann also had strong showings at ASHG.
Heather Issen held a poster session on the NIA Genetics of Alzheimer’s Disease Data Storage Site ( NIAGADS ), a rich resource for AD researchers to promote Alzheimer’s genetics research advancements. NIAGADS enables AD researchers to achieve their research objectives more effectively through housing datasets from many projects and institutions. Conor Klamann presented his poster on the NIAGADS Alzheimer’s Genomics Database (GenomicsDB), an interactive knowledge base for AD genetics and related neuropathologies that provides unrestricted access to genome-wide association studies (GWAS) deposited at NIAGADS. These data are curated along with variant and gene annotations and AD-relevant functional genomics datasets, allowing AD researchers to quickly identify and interpret interesting genomic regions via interactive search strategies and the NIAGADS genome browser.
Although held virtually this year, ASHG has continued to solidify its place as one of the world’s largest events for genetics and genomics research providing a space for the presentation and discussion of cutting-edge science in all areas of human genetics. In addition to the poster presentations presented by members of PNGC, ASHG’s virtual conference included a full schedule of abstract sessions, plenary sessions, CoLabs, and invited sessions.
“The ASHG virtual conference provided a wonderful opportunity to share our work with other researchers in the field while learning about the work of other labs undertaking similar projects,” said PNGC’s Conor Klamann. “The virtual poster format turned out to be very efficient, and I was able to quickly find out a lot about the methods and technologies being used around the world.”
Those who registered for the ASHG virtual conference may find all these presentations and more through ASHG’s website until October 2021.
Stay tuned with PNGC as we continue to update you with our work and the latest Alzheimer’s genetics research.