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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
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Free CAT scan to detect coronary artery disease. Finding gene changes that are important to your health and/or the … LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing … by analysis of massively parallel sequencing data sets. Gene Med , 2015. [In Press] Amendola LM, Dorschner MO, …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… approaches. Dr. Liu discovered that a CBFB-MYH11 fusion gene is the product of chromosome 16 inversion, a common … CBFB-MYH11 for leukemia development, and how this fusion gene works. His group has also made important discoveries … respectively) that form a dimer for DNA binding and gene expression regulation, are frequent targets of such …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that the mutation profiles of … CCEC patients. They also uncovered mutations in the TAF1 gene, a gene that had not been previously implicated in CCEC. … of a transcription factor complex, which regulates the expression of other genes throughout the genome. In addition, …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… previous methods such as linkage mapping and candidate gene approaches. The CMGs aim to make major contributions to … … Genetic Disorders, Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The …
Staff
Dr. Elise Feingold was a scientific program manager in NHGRI's Division of Genome Sciences.
… (then NCHGR) in 1992 as a program director focused on gene discovery, gene expression and functional genomics. Since 2019, Dr. Feingold …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 publications …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Nature , offer insights into embryonic development, gene regulation and other biological processes vital to … Of DNA Elements (modENCODE) Consortium studied how gene expression patterns and regulatory proteins that help …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… loop. These neighborhoods bring distant genes and specific gene control switches into close proximity. Genetic … merge in brain tumor cells. Researchers found that one gene came under the control of a gene control switch from a different genetic neighborhood, …