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The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be … may lessen severity of COVID-19 Mapping which coronavirus variants will resist antibody treatments Study identifies …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be … phenotypic effects in a target subset of 1,000 protein coding genes across the program. Phase 1 will also assess the …
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
… to a number of diseases. Focus on a single disease is non-responsive to RFA-HG-20-043 and RFA-HG-20-045. Year 1 is … framework during the planning year. For studies proposing variants, would the study of structural variants be … RFA can predictive modeling methods include analysis of coding variants and non-coding variants? Yes. Coding and …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… "I was curious about how the information is encoded in non-coding regions of the genome, and it looks like that's where … Boston, Clinical Prioritization of Reported Disease Variants in Asymptomatic Individuals Barbara Elizabeth …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… related to cardiovascular disease and scoliosis), the coding and non-coding elements that may be responsible for their … research program has been the identification of genetic variants responsible for the variation in quantitative …
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… resource comprised of knockout information for all protein-coding genes in the mouse genome. … Humans share most of … bespoke mouse mutants with human disease-associated coding variants to confirm pathogenicity, susceptibility or … mouse strains to study, phenotype and validate coding and non-coding genetic variants (e.g., missense, structural …
Virtual Exhibit
The completion of the Human Genome Project in 2003 and subsequent boom in the genomics field has had a profound impact not just on biology and medicine but also on ethics and society. The project also changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
… retired this term and instead refer to these sections as “non-coding DNA.” We now know that some of these regions of the … gene expression, among other things. There are still many non-coding regions of the genome whose functions are still …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… multi-omic datasets to address the issue of inherited, non-coding mutations and their role in increasing the risk and … of dog breeds that serves as a background for identifying variants associated with common traits and diseases. She has …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… on the mechanisms and consequences of genome instability, non-coding RNA biology, and translational genomics. Developing …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… (e.g. disease) of genetic variation, particularly in non-coding regions of the genome. This is a highly significant … problem, as the vast majority of disease-associated variants found using GWAS lie outside of protein-coding …