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News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… understand the function of every human gene and generate a catalog of the molecular and cellular consequences of … and developing molecular and cellular approaches to catalog gene function that other researchers can reproduce. … drugs to target and treat those diseases. Creating a catalog of what all human genes do is no easy feat. Most …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide … Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… The efforts of ENCODE 3 reveal the most extensive catalog to date of candidate functional elements that may … work was needed to complete and understand the growing catalog of candidate gene-regulatory elements, NHGRI funded … the interpretation of genome-wide association studies (GWAS) and other genomic research projects. …  Shannon Zenk, …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… lead for the online NHGRI Genome-wide Association Study catalog. In her time at NHGRI, she has authored or … in genomics studies, with application to the NHGRI-EBI GWAS Catalog. Genome Biol . 2018 Feb 15;19(1):21. doi: … Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res , pii: gkw1133. 2016. [ …
News Release
ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.
… Elements (ENCODE) Project has spent 13 years building a catalog of all the functional elements in the human genome … ​ … ENCyclopedia Of DNA Elements Project, ENCODE, catalog of functional elements in the human genome sequence, …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… typically conduct a genome-wide association study (GWAS), which compares the genomes of thousands of people with a disease to those without the disease. However, a GWAS can identify hundreds of genetic variants associated … genetic variation, genome-wide association study, GWAS, Lisa Brooks Ph.D. … NIH will fund researchers to …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… of and replaces the Genome-Wide Association Studies (GWAS) data sharing policy. Since 2007, the GWAS policy has governed biomedical researchers' submission … provided by participants in the original study. Under the GWAS policy, more than 2,200 investigators from 41 different …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… a particular disease​. … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, Genetic Variation, Gene … …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… then moved on to perform genome-wide association studies (GWAS), and has subsequently become an integral part in several worldwide GWAS consortia studying T2D and quantitative traits. To date, … great interest, T2D-susceptibility alleles identified by GWAS are found to lie preferentially in islet-specific …