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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.
… has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which … and experienced community of people who have a heart for genomics and genetics,” said ASHG President Brendan Lee, …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Genomics Research Consortium will include five centers and a data coordination site. … The National Institutes of Health … significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the … year using a technique called whole-exome sequencing. This method sequences all the regions of the genome responsible …
Event
Webinar to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020.
… Additional Resources … Contacts … NHGRI will fund a new Human Genome Reference Program (HGRP) beginning in fiscal … high quality reference genomes, research and development for reference representations, informatic development, and …
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 consideration to the GMWG, please email: GMWG@nih.gov . …
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific … program has fueled the development of novel technologies for studying the human genome, including deepening our … and Medicine . Dr. Aksimentiev and his group are using a method called all-atom-molecular dynamics, a computer …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… Search for specific publications by title, author, category and/or … 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 …
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.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …
Media Advisory
On May 30, 2024 at 10:00 AM ET, RNA experts will discuss the recently released NASEM report and what it means for the future of RNA research and genomics.
… on the latest RNA research efforts, including methods for sequencing RNA and detecting RNA modifications. Both … attention in the genomics community, punctuated by a new report from the National Academies of Sciences, …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… Sarah A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National … provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data …