FILER: a framework for harmonizing and querying large-scale functional genomics knowledge

PNGC is pleased to announce the release of the FILER, a functional genomics repository developed by NIAGADS, now published in NAR Genomics and Bioinformatics. Functional genomic and annotation data such as tissue-specific regulatory/enhancer elements, transcription factor binding, chromatin states, and interactions are widely used in systems biology, genetic and genomic studies, e.g., to interpret non-coding […]

Alzheimer’s Disease Variant Portal (ADVP): The Newest Curated Population-specific Alzheimer’s Disease Genetics Resource

By Fernanda Ruiz, NOVA Research Company Alzheimer’s Disease (AD) is a devastating disease that affects more than 6 million Americans, a number that is projected to increase considerably in the near future. Scientists looking for the causes of AD use different approaches, including genomic studies like genome-wide association studies (GWAS), that detect associations between genetic […]

PNGC Co-Director Li-San Wang to Present at the 2021 NIH Alzheimer’s Research Summit

The NIH will host their 2021 Alzheimer’s Research Summit April 19-22. This virtual summit will convene leading AD scientists, innovators, and public health advocates to showcase progress in Alzheimer’s disease research and ideas for supporting the goal of precision medicine for Alzheimer’s treatment and prevention. On Tuesday, April 20, Drs Li-San Wang (Penn) and Timothy […]

Lauren Kleidermacher Receives Thouron Award

University of Pennsylvania senior and PNGC undergraduate researcher Lauren Kleidermacher was awarded the Thouron Award to pursue her graduate studies in the United Kingdom. The award was established in 1960 by John Thouron and his wife, Esther du Pont Thouron, to promote closer ties between the U.K. and the United States. The award covers full […]

NIAGADS DSS Releases Additional 17K Whole Genomes

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.

Alzheimer’s Disease Variant Portal

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 […]

Alzheimer’s Disease Genetics Global Symposium

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 […]

PNGC at AAIC 2020 Roundup

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.

SparkINFERNO Accepted in Bioinformatics

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 […]

Event Recap: The Alzheimer’s Disease Genetics Consortium (ADGC) 10-Year Symposium

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 […]

The Founders of PNGC

The Penn Neurodegeneration Genomics Center was founded three years ago by Dr. Gerard Schellenberg and Dr. Li-San Wang. Together they have contributed over 40 years of their lives to Alzheimer’s research. How did you get started in Alzheimer’s research? Dr. Schellenberg: Dr. Schellenberg was offered a grant in 1982 for Alzheimer’s research. At the time, […]

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