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News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as … in a single gene. So far, researchers have identified the genomic causes for only about half. Individually, a rare … have also made more than 960 discoveries linking specific genomic changes with diseases. These include 375 previously …
Event
On August 15-16, the National Human Genome Research Institute (NHGRI), the National Science Foundation (NSF) and the United States Department of Agriculture (USDA) sponsored a meeting Perspectives in Comparative Genomics and Evolution at the Bethesda North Marriott Hotel & Conference Center in Rockville, Maryland.
… comparative genomics with a focus on commonalities across genomic investigations into humans, model organisms (both …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in … ancestries across the network can be harnessed in large genomic discovery studies. Several studies aimed to show the usefulness of electronic medical records in genomic research studies to understand gene-disease …
Event
On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics community convened for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC).
Events
The National Human Genome Research Institute (NHGRI) hosted the Advanced Genomic Technology Development Meeting at Northeastern University in Boston, Massachusetts, on May 29 - 31, 2019.
… Genome Research Institute (NHGRI) hosted the Advanced Genomic Technology Development Meeting at Northeastern … and technical challenges to advancing a broad set of genomic technologies including those for nucleic acid sequencing.  The meeting brought together NHGRI Genomic Technology Program grantees and other scientists and …
Research Funding
Bioinformatics and computational biology are cross-cutting areas broadly relevant and fundamental across the entire spectrum of genomics.
… the NIH-funded biomedical data science ecosystem. Read the Genomic Data Science Fact Sheet . See the Draft 2023-2028 NIH … of disease; the implementation and effectiveness of genomic medicine, computational genomics and data science; … and ethical, legal, and social issues related to genomic advances." … The Computational Genomics and Data …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… a pre-application interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding … below. … What information can be used to formulate a genomic risk assessment and management plan? Each genomic … decided upon by the Steering Committee. What is Fast Healthcare Interoperable Resource (FHIR) and how are will it …
Research Funding
The CEGS Program supports multi-investigator, interdisciplinary research teams who develop novel and innovative genomic research projects.
… of novel approaches for conducting biomedical research at genomic scale. CEGS develop new concepts, methods, … by NHGRI’s current broad research portfolio in basic genomic science, genomic medicine, data science and computational genomics, as …
Professional Development
This is a fellowship program designed for recent undergraduates to gain exposure to and training in multiple career paths that advance public service for human genetics and genomics.
News Release
Supporting early career investigators at the cutting edge of genomics.
… career investigators at the cutting edge of genomics … The Genomic Innovator Awards will provide funding to six … support early career researchers studying genome biology, genomic medicine, technology development and societal implications of genomic advances. The amount of support to accelerate …