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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- 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)1
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary … by NHGRI to Intramural Investigators employing exome/genome sequencing. … DNA Sequencing, Exam Sequencing, …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare … NHLBI. We currently estimate that the CCDG program will sequence approximately 100K whole genomes and 125K whole … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … Green Alan Beggs Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and Newborn …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… More complete and sophisticated collection of genome sequences captures significantly more human diversity. … The new pangenome reference is a … may be found on the project’s main page . … Liao et al. A draft human pangenome reference . Nature . Doi: …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… counter to the mission and values of NHGRI. … The National Human Genome Research Institute is the driving force for advancing … original schedule. The HGP plans to generate a "working draft" in 2001 that, together with the finished sequence, …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… For those readers going to the annual American Society of Human Genetics’ annual meeting later this month, I would like … setting. … As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding megabases of genome sequence to public databases weekly, as large-scale DNA …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… … Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may … Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). Dr. Bianchi is also the … Credit: Getty Images. The investigators analyzed DNA sequence data from nearly 90,000 samples of maternal plasma, …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… genomics Hover or swipe over the illustration to zoom. The Human Genome Project (HGP) Timeline contains major milestones in … Images include the announcement of the completion of the draft human genome, technologies used for DNA sequencing, and …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Steven Benowitz … Researchers analyzing human, fly, and worm genomes have found that these species … the ENCODE Project, both supported by the National Human Genome Research Institute (NHGRI), part of the National … modENCODE projects - including more than 67 billion gene sequence readouts - to discover gene expression patterns …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… that emphasizes the generation and analysis of DNA sequence. In addition to providing investigators at the … and analytical procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across …