Search Results
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for all NHGRI clinical research protocols, as well as basic science studies …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… The NHGRI Intramural Research Award distinguishes meritorious research accomplishments for a single, notable research achievement or a larger body of work of exemplary … the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… An international research team has generated the first truly complete sequence … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into … assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program Coordinating … funded in 2016 to coordinate activities across the Genome Sequencing Program components. … and administrative activities including: Tracking genome sequencing and analysis costs; data production and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … At the National Institutes of Health, we are interested in research. Although we are happy to provide advice for people … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… the Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement … data for the purpose of conducting and disseminating Consortium-wide PRS analyses. … The Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium is working to improve the methods and application …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their … NIH RUNX1-FPD Clinical Research Study Introduction and Q&A Webinar July 9, …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in … to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake novel, … Genome Sequencing Program Analysis Centers … to harmonize, access, and analyze the data produced by the sequencing centers. ​ …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes and genomes. However, it is … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of … of genomic variants. Working groups are implementing evidence-based expert consensus methods to curate the …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Hadjantonakis Sloan Kettering Institute for Cancer Research Johns Hopkins University School of Medicine Sloan Kettering Institute for Cancer Research Genomic control of gene regulatory networks … Center for the Impact of Genomic Variation on Function Consortium HG012012 Ting Wang Feng Yue Washington University, …