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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
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… Program, Frank KM, Palmore TN and Segre JA. Whole genome sequencing overrules a suspected case of … Program, Palmore TN, Frank KM and Segre JA. Complete genome sequence of a Klebsiella pneumoniae carrying bla NDM-1 … DK, Frank KM, Segre JA and Palmore TN. Detection and whole genome sequencing of carbapenemase-producing Aeromonas …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… (IGNITE) program administered by the National Human Genome Research Institute (NHGRI), part of NIH. All three … Two grants focus on the use of pharmacogenomics, which studies how a patient's genetic make-up affects drug … University Medical Center, Nashville, Tennessee for studies on genomically guided prescriptions of cardiovascular …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically … of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National … , the peer-reviewed journal of The American Heart Association. … Twenty years ago, The New York Times published …
Research Funding
The Division of Genomics and Society focuses on the societal issues that need to be studied and addressed as genomics advances.
… Implications (ELSI) research program and integrating NHGRI-wide activities in these areas. … The Division of Genomics … a working group of the National Advisory Council for Human Genome Research (NACHGR). The mission of the Genomics and …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Network. eMERGE is supported by the National Human Genome Research Institute (NHGRI), part of the National … that information in hand, researchers performed genome-wide association studies (GWAS) to test hundreds of thousands of …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients … in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … Multiple Congenital Anomaly Syndromes Whole Genome Medical Sequencing for Genome Discovery Myocardial …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… … Late last month, I attended the annual Advances in Genome Biology and Technology (AGBT)  general meeting. The … – in one way or another – busily involved in the Human Genome Project. Having now attended all 21 AGBT general … decade, NIH has embarked on an effort to develop a new NIH-Wide Strategic Plan for Fiscal Years 2021-2025. This new plan …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… data use is consistent with those choices. For genomic studies involving the use of previously collected samples, … do not have [disorder]. You may learn something about your genome that relates to the health of your relatives. If so, … However, it is possible that the information from your genome, when combined with information from other public …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.
… Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a … of genomics, race and human genetic variation. … The unit studies sickle cell disease as a case study of a genetic … the Division of Intramural Research at the National Human Genome Research Institute, located in Bethesda, MD, USA. Our …