PNGC blog

Penn Medicine Press Release Highlights New Data Sharing Service

Recently, Penn Medicine News wrote a press release describing the new NIAGADS Data Sharing Service (DSS), which will distribute genomic data to qualified investigators.  Initially, whole-genome sequence data will be available for 5,000 subjects, with more data to be released within a year.

SPAR: Small RNA-seq Portal for analysis of sequencing expeRiments

PNGC is pleased to announce the release of the SPAR web server for small RNA-seq data analysis.

Small non-coding RNAs (<200 nts, sncRNAs) play important regulatory roles by binding to mRNA and associating with transcription factor complexes in most eukaryotes, but only a fraction of sncRNAs, which include many different classes, have been identified and characterized.

PNGC Hosts Guest Seminar on Proteomics and Tauopathy

Judith Steen, an Associate Professor of Neurology at Harvard Medical School, spoke at Penn at the beginning of May. Dr. Steen has conducted research in the field of proteomics (the study of the structure and function of proteins), as well as the systems biology of proteopathies, or diseases due to…

The State of Alzheimer’s Disease Genetics Research: A Discussion with Dr. Gerard Schellenberg

  • Human genetics helps us understand the biology of Alzheimer’s and identify drug targets.
  • Improvements in technology such as sequencing and gene therapy are promising.
  • Large sample sizes and rich phenotypes are critical to finding new AD genes.
  • Data visualization and outreach will encourage closer collaboration among the research community.

Largest GWAS To Date Implicates Abeta, Tau, Immunity and Lipid Processing in LOAD

The Alzheimer’s Disease Genetics Consortium (ADGC) and and the International Genomics of Alzheimer’s Project (IGAP) performed the largest genetic wide association study (GWAS) to date to discover risk loci for LOAD. Their meta-analysis implicates Abeta, Tau, immunity and lipid processing. The paper on Alzheimer’s disease genetic association has been published on bioRxiv and can be found here.   Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing Brian W. Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis, Adam C. Naj, Anne Boland, Maria Vronskaya, Sven J van der Lee, Alex…


PNGC is pleased to announce the release of the INFERNO (INFERing the molecular mechanisms of NOncoding genetic variants) method ( Since the majority of variants that genome-wide association studies (GWAS) identify are outside of protein-coding genes and may be proxies of truly causal variants that are inherited together in linkage disequilibrium (LD), there is a need to integrate large-scale genomics datasets measuring regulatory activity in the noncoding genome to discover the functional effects of these variants. INFERNO is a software tool and web server that integrates public genomic data with GWAS summary statistics to characterize the mechanisms of noncoding variants…

NIAGADS GenomicsDB Release

NIAGADS is pleased to announce the release of the Genomics Database v. 3.1, which features a major face lift intended to improve user experience. NIAGADS GenomicsDB is a public resource that researchers can access without having to formally request data. This release greatly improves the visualization of summary statistics on the genome browser section of the site and adopts positional variant identifiers to allow more precise linkage of annotations to variants. It also introduces new variant annotations such as 1000 Genomes population frequencies, a shift from NCBI to Ensembl for the gene reference, and updated gene and variant annotations from…

Dr. Brad Hyman Speaks at Penn

Penn Neurodegenerative and Genomics Center was fortunate to have Dr. Brad Hyman visit from Boston and give a seminar style presentation on November 29. Dr. Hyman has worked at Massachusetts General Hospital for 25 years seeing patients with Alzheimer’s disease, and he currently serves as the Alzheimer’s Unit Director at the Institute for Neurodegenerative Disease there. Dr. Hyman’s presentation focused largely on the heterogeneity of Alzheimer’s disease, and he provided some context for his talk with a story about two different patients. The first was a professor at a prominent university who was worried about having to concentrate harder in…

Li-San Wang Quoted in CBS Article

“Can the machine invasion help save your brain?” CBS explores this question in an October 27 article about the development of technology as it relates to advances in Alzheimer’s disease. While the amount of genetic data available has increased in recent years, the speed at which it gets sifted through also needs to increase in order to effectively pinpoint detection and risk factors for the disease. The need for machine learning and artificial intelligence is huge, as they can more easily detect patterns across the human genome. Cloud storage systems have been particularly helpful in this regard, the article notes.…