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.
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, […]
A team of researchers led by Li-San Wang, PhD, Professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania, has been awarded a two-year pilot grant expected to total $4.8 million from the National Institute on Aging (NIA) to study the genetics of Alzheimer’s disease in people of […]
Alzheimer’s disease (AD) is one of the most serious public health challenges that affect the nation. Both the direct and indirect costs of AD have been stressing the healthcare system. The cause of AD, however, is still unknown. The recent development of genome-wide association studies (GWASs) has been a powerful tool for discovering thousands of […]
The Alzheimer’s Association and the National Institute on Aging have organized a virtual symposium on the Alzheimer’s genes and hereditary. The aim of the symposium is to discuss global studies in Alzheimer’s, advances in genetic pathways, and the implications of this research on clinical practice and public health around the globe. Virtual presentations for the […]
When the Covid-19 pandemic hit the globe hard this spring, Alzheimer’s Disease researchers weren’t sure what was going to happen to their annual Alzheimer’s Association International Conference (AAIC), originally planned for Amsterdam. AAIC’s goal is to convene the world’s leaders in dementia science to share research discoveries that will lead to methods of prevention and treatment, and improvements in diagnosis for Alzheimer’s disease—it would have been a huge disappointment for the AD research community to miss out on their conference.
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 […]
Alessandra Chesi recently joined the Department of Pathology and Laboratory Medicine in the Division of Experimental Pathology, as well as the Penn Neurodegeneration Genomics Center. Alessandra joins us from CHOP where, from 2013-2020, she was a Bioinformatic Specialist in Struan Grant’s lab and the Center for Spatial and Functional Genomics. Before joining CHOP, Alessandra worked in the laboratory […]
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 […]
The NIA is excited to announce the release of the latest genomics data set from the Alzheimer’s Disease Sequencing Project (ADSP). The NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) is a vital tool as we seek to better understand genes that increase risk for — or protection from — AD/ADRD. Researchers can now access […]
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 […]
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