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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), which are both part of the … genome analysis technologies, including large-scale genome sequencing. … The Cancer Genome Atlas … The Cancer Genome …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… The National Human Genome Research Institute (NHGRI) sponsored the meeting …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of … in 2014, are described in Nature : “Technology: The $1,000 Genome.” The history and achievements of the $1,000 Genome Program, which was led by Dr. Jeffery Schloss , as the …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and … principle ways. Primarily, they will leverage genome-wide sequencing technology and other complementary genomic …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… Related Resources … The Newborn Sequencing in Genomic Medicine and Public Health …
Office of Genomic Data Science
NHGRI is committed to increasing the availability of educational and research opportunities in computational genomics and data science (CGDS).
… research. On several areas such as use of microbiome sequencing as a topic for student-led research projects in …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… variation, particularly in non-coding regions of the genome. This is a highly significant problem, as the vast …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… the most significant historical artifacts from the Human Genome Project and other major genomics efforts. To receive … of historically significant materials from the Human Genome Project, one of the most important undertakings in … April 29 – 30, 2015 A Quarter Century after the Human Genome Project's Launch: Lessons beyond the Base Pairs …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Genomics Research Center U01HG011744 … The National Human Genome Research institute funded the GREGoR Consortium in … gene was not identified by solely using whole exome sequencing. The DCC will manage data release and disseminate … an increased focus on the application of new technologies, sequencing strategies and analytical approaches. … The GREGoR …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… The human genome reference is used by essentially all researchers who need to align and assemble experimental or patient genome sequence data. It also serves as a consensus … and an effort to continue to develop technology for sequencing complete high-quality genomes. See Table below. …