Search Results
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient … finding genetic relationships between regions of the human genome and cancer development, progression, response to …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or  Obtains, uses, studies, analyzes, or generates identifiable private …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex … clinical observation, genetic analysis and functional studies. MCIDGB investigators seek to understand the … Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and cost-effective than … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing Plan.  Follow the … for data sharing that are specific to NHGRI-supported studies. The NHGRI Data Sharing Governance Committee oversees …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… September 2013. The GDS policy can be traced to the Human Genome Project, completed in 2003, which required rapid and … The GDS policy is an extension of and replaces the Genome-Wide Association Studies (GWAS) data sharing policy. Since 2007, the GWAS … Genomic data sharing policy, GDS, data to knowledge, Human Genome Project, GWAS policy, dbGaP, Informed consent …
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… National Human Genome Research Institute (NHGRI) National Institute for …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… Development, senior investigator in the National Human Genome Research Institute (NHGRI) Center for Precision Health … copy of over 200 protein-coding genes to that person’s genome, which causes difficulties with learning, speech and … standard for Down syndrome research, used in preclinical studies for nearly 30 years. Along with some successful …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National … 5, 2015, and to be published in the July 2015 issue of Genome Research , the researchers reported that the … to both generate mutants for all genes in the zebrafish genome and carry out large-scale phenotyping, they noted in …