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Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… cancer. Her laboratory has since identified novel, high-frequency somatic mutations in PI3-kinase in endometrial … In early studies, Dr. Bell's laboratory used high-throughput Sanger sequencing, coupled with a candidate …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… data or other molecular data produced by array-based or high-throughput sequencing technologies. NHGRI's Expectation Under …
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 Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable genotypes and … disease risk Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian … newborns for whole-genome sequencing Population genomic screening for common hereditary conditions may be cost …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… 12, 2025 SBIR Solutions to Enable Population Genomic Screening (R43/R44 Clinical Trial Optional) PAR-24-263 … Center for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01 …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… elements, genes, and phenotypes; applying single-cell, high-throughput “omics” methods to study genes and regulatory …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… development phase of the project aimed to develop new high throughput methods to identify functional elements. The goal … was chosen because it is can be transfected with high efficiency and large quantities of these cells can be …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… well-positioned to sustain long-term studies and support high-risk, high-reward projects, both of which can be challenging to … Center for Inherited Disease Research (CIDR) high throughput sequencing and genotyping resource access Native …
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… RFA is primarily experimental and is focused on high throughput perturbation of non-coding or protein-coding …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family …
Policies and Guidance
For FY2023, NHGRI’s extramural program will be operating under the NHGRI 2020 Strategic Vision.
… new genomic technologies or methods that are applicable to high-throughput, comprehensive data analyses, e.g., for genomes, … are in rapidly evolving areas of science, are particularly high-risk projects, or when review or Council recommend a …