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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… blueprints for life. … Did you know that just knowing the genome sequence of an organism only reveals part of the story … important to determine how that organism interprets its genome and uses that information to build and operate itself accordingly? Less than 2 percent of the human genome corresponds to "genes," but we know other parts are …
Educational Resources
An anticodon is a trinucleotide sequence complementary to that of a corresponding codon in a messenger RNA (mRNA) sequence.
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase … variants with clinical implications by using the latest sequencing technologies to examine rare and common variants … in patient electronic health records, and along with genome-wide testing, explore the roles of variants in a …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Complex Disease Genomics Section. … The National Human Genome Research Institute (NHGRI) has appointed Neil … to use genomic and genetic tools to understand complex pediatric diseases and traits in diverse populations. His … laboratory-based and clinical methods to study several pediatric diseases, including sickle cell disease, severe …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), which are both part of the … genome analysis technologies, including large-scale genome sequencing. … The Cancer Genome Atlas … The Cancer Genome …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… skills to the genomics field in 1997, just as the Human Genome Project was scaling up. He has been involved in many aspects of the Human Genome Project as well as numerous other genome projects. His … to analyze large data sets generated by systematic DNA sequencing projects. A highly skilled computational …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… University, where he combined his interests in early genome sequencing of the Escherichia coli genome with the nascent field of bioinformatics. He used …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … word.  … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … usual processes and lead to a disease such as cancer.  … Sequencing simply means determining the exact order of the …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… in contributing to the completion of the human genome sequence, redefining the future of genomics. … When … grants provided by institutes such as the National Human Genome Research Institute (NHGRI), among others. Small … development ecosystem. Until recently, almost all genome sequencing methods required researchers to extract DNA from a …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease … 6503 participants: challenges of variant classification. Genome Res , 2015. [In Press]  Lewis KL, Han PK, Hooker GW, …