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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.
… The catalog of genetic skeletal disorders has more than 770 …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… most abundant on human skin. The results appear in a new catalog, the Skin Microbial Genome Collection (SMGC), … the collaborative study. According to researchers, the new catalog is remarkable in its breadth, bringing to light an …
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 … and limitations of the approaches being used to create the catalog. …
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: … sequencing, epidemiology, genome-wide association studies (GWAS), health disparities …
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. …
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​.
… Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, …
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, …
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 …