NIAGADS is pleased to announce the release of whole genome sequencing (WGS) data from 16,906 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and project-level VCFs across all samples. The pVCF released here is provided as a preview to the formal ADSP quality control that will be released in a few months.
Recently, a new page called “How Researchers Can Tap into Data and Samples from Alzheimer’s Disease Research Centers” went live on the National Institute of Aging website. The page highlights how three different resources coordinate approaches in cataloging and sharing data from NIA-funded Alzheimer’s Disease Research Centers (ADRCs). The resources are the National Alzheimer’s Coordinating […]
PNGC is pleased to announce the release of “HIPPIE2: a method for fine-scale identification of physically interacting chromatin regions”. Because most regulatory chromatin interactions are mediated by numerous transcription factors (TFs) and involve physically interacting regions (PIRs), HIPPIE2 was developed to map these elements and interactions at a much finer scale (sub-1Kb resolution). HIPPIE2 is […]
PNGC is pleased to announce the release of SparkINFERNO, a next-generation of INFERNO (INFERring the molecular mechanisms of NOn-coding genetic variants) bioinformatics pipeline. While genome-wide association studies (GWASs) have identified over 70,000 disease-associated genetic variants, most hits are in the non-coding region, which makes their interpretation difficult. SparkINFERNO, a scalable, high-throughput bioinformatics pipeline characterizing noncoding […]
Last month, on November 12 and 13, the Alzheimer’s Disease Genetics Consortium (ADGC) 10-Year Symposium took place at the Inn at Penn in Philadelphia, PA. The event was sponsored by the Perelman School of Medicine and the Department of Pathology and Laboratory Medicine, and it was organized by ADGC, Penn Neurodegeneration Genomics Center (PNGC) and […]
PNGC members had a great experience at the Alzheimer’s Association International Conference (AAIC) this year. AAIC took place in Los Angeles from July 12-17. We presented four posters during the conference and the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) exhibited for the first time. In addition, Dr. Adam Naj […]
PNGC is pleased to announce that Dr. Fanny Leung, Research Assistant Professor at the University of Pennsylvania and PNGC faculty member, recently had an application funded under the 2019 Biomarkers Across Neurodegenerative Diseases (BAND 3) Program. This award is sponsored by The Alzheimer’s Association, Alzheimer’s Research UK (ARUK), The Michael J. Fox Foundation for Parkinson’s Research (MJFF), and the Weston Brain […]
AD/PDTM 2019, the 14th International Conference on Alzheimer’s and Parkinson’s Diseases and related neurological disorders, was held in Lisbon on March 26-31. The conference is at the forefront of unraveling the mechanisms and improving the treatment of Alzheimer’s, Parkinson’s and other related neurodegenerative diseases. AD/PDTM Conferences uniquely combine distinct neurodegenerative diseases in one setting and examine their similarities and differences;
On Friday, April 12, Genomics and Computational Biology student Alex Amlie-Wolf defended his Ph.D. thesis. His work during his time as a student in the GCB program included the development of the INFERNO method, a software tool and web server that integrates public genomic data with GWAS summary statistics to characterize the mechanisms of noncoding […]
The International Genomics of Alzheimer’s Project (IGAP) has identified five new genes that increase risk for Alzheimer’s Disease, as well as confirmed the association of another 20 genes and AD risk. The consortium has also found that tau related mutations could play an earlier role in disease development than previously understood. IGAP is led by […]
Penn Neurodegeneration Genomics Center (PNGC) had the exciting opportunity to host Dr. Badri Vardarajan last semester. Dr. Vardarajan gave a seminar style talk around some of the work he and his team are doing at Columbia, and we’ve recapped below. Dr. Vardarajan has a background in computational biology and is an Assistant Professor of Bioinformatics […]
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