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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
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… The Partnership for Community Outreach and Engagement in Genomics brings together community liaisons and health … diverse populations to engage communities around genomic science, to inform and share perspectives about … University, Bozeman Gwen Darien, Executive Vice President, Patient Advocacy, National Patient Advocate Foundation Ella …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to … of practice for nurse practitioners related to genetic and genomic care includes but is not limited to the following: … 2017) explains types of data found in whole genome sequencing or whole exome sequencing test reports.  Jackson …
News Release
NIH issues a final Genomic Data Sharing policy to speed the translation of data into knowledge, improve health and protect patient privacy.
… … The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as … of research participants. The final policy was posted in the Federal Register Aug. 26, 2014 and published in the … rapid and broad data release during its mapping and sequencing of the human genome. The GDS policy is an …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Starting in 2019, the American Journal of Human Genetics (AJHG) has … an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in … to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common hereditary …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… free, online collection of more than 500 materials for use in the classroom and for self-directed learning of genetics … of NHGRI's effort to address the growing need among health care professionals for knowledge in genomics, a science that … Messersmith, Ph.D., a health policy analyst with NHGRI's Genomic Healthcare Branch, which created the website. "Our …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… consortium named the Encyclopedia of DNA Elements (ENCODE) in September 2003 to carry out a project to identify all … genome was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of … Comprehensive Extraction of Biological Information from Genomic Sequence , to discuss this proposal. The workshop …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to … by applying individualized information, which includes genomic health information (Essential 2.2i).  Nurses must be … 3rd Edition* Gathers historical data including the patient’s health history, family health history, familial …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome … new group of awards - which total more than $4.5 million in the first year - is wide-ranging, and includes several …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 … Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine GenomeWeb 2013 November 9, 2013: Young …