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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood cells and … before birth (during fetal development). After birth, a gene that codes for a blocking protein (BCL11A) is turned on. … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… Disorders, Convergent Neuroscience, the Genotype-Tissue Expression project, Human Pangenome Reference Consortium, … workforce and advance health equity. … Genomics Research Gene expression profile could enable rapid identification of …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… need to bind to specific enhancer sequences to express a gene. The researchers used new genomic techniques called …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… the largest sequenced-based analysis of microRNA expression in human pancreatic islets to date,” said Francis … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… map of the functions of regulatory and non-regulatory gene elements. The IGVF consortium includes five components: … five years to support the Developmental Genotype-Tissue Expression (dGTEx) project, with funding from NHGRI, the … therapeutic genes to muscles NIH will expand existing gene expression resources to include developmental tissues …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… Novartis) have created their own LINCS-related low-cost gene-profiling technologies, and Novartis has even leveraged … for Non-Human Primate Developmental Genotype-Tissue Expression project (NHP dGTEx) — July 9 NIH webinar on … Non-Human Primate Developmental Genotype-Tissue Expression (NHP dGTEx) project New investigators to promote …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… these regions, they were able to identify a likely causal gene that encodes the metabolizing protein. These findings … functional influences of genomic variants, with a focus on gene expression. Lastly, ML is being used for improving the …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… published: February 3, 2022 The Genotype-Tissue Expression (GTEx) project generated NHGRI’s most frequently … studying the relationship between genomic variation and gene expression. Because GTEx data can be shared for general …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… insights into the biological mechanisms underlying gene-by-smoking and gene-by-alcohol consumption interactions Prog Nbr 298 Amy … Extensive Differential cell type-specific gene expression and regulation by sex in human skeletal muscle …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… parts I liked best were the statistical parts of it — the gene discovery part. … Soo: What were some of the projects … that led to Mary-Claire King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated … frequency of this rare cancer. We identified the first gene to cause carcinoid tumors in one family we studied. What …