Search Results
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… the development of genome-wide association studies (GWAS), phenome-wide association studies (PheWAS), … and exploration of the impact of rare disease variants. GWAS evaluates the association of millions of genetic …
Profile
In a conversation, Dr. Elise Feingold reflects on her path to NHGRI, describes her experience leading the ENCODE program and shares advice for those considering different scientific careers.
… project , a monumental effort that sought to decipher and catalog all of the functional elements encoded in the human …
Staff
Dr. Rudy Pozzatti is the chief of NHGRI's Scientific Review Branch.
… to sequence genes, annotate genomes and building catalog of genetic variations. We're beginning to fund …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… make a difference in the lives of these patients. … The catalog of genetic skeletal disorders has more than 770 …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… biological function.” The IGVF consortium will develop a catalog of the results and approaches used in their studies. …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… since most published genome-wide association study (GWAS) efforts have been heavily biased towards the inclusion … PAGE study describes the steps for performing multi-ethnic GWAS – from chip design through variant interpretation – for …
File
… (missing) heritability for common disease from GWAS data.pptx …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… behalf of the NIH Common Fund. The LINCS program aims to catalog and analyze cellular function and molecular activity … cells. The ultimate aim is to create a genome-scale catalog of the consequences of cellular perturbation. This …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… researchers performed genome-wide association studies (GWAS) to test hundreds of thousands of genetic variants …