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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
News Release
NHGRI celebrated the 15th anniversary of the Human Genome Project with a "15 for 15" Celebration that commemorates the genomic advances since 2003.
… Palmer … On April 25th - National DNA Day - the National Human Genome Research Institute (NHGRI) will celebrate the 15th anniversary of the completion of the Human Genome Project. To commemorate …
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 variants. Any secondary …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… The Y chromosome is one of two human sex chromosomes, the other being the X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences of …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… to a study by researchers at the National Institutes of Health and other institutions. Because of the way data … Credit: Getty Images.  The investigators analyzed DNA sequence data from nearly 90,000 samples of maternal plasma, … authors from Illumina Inc., in Redwood City, California. Reference: Pertile, M., et al. Rare Autosomal Trisomies, …
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 … disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery … NHLBI. We currently estimate that the CCDG program will sequence approximately 100K whole genomes and 125K whole …
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.
… operating based on last year’s budget — awaiting passage of a new budget for the current fiscal year. The CR allows … in its seventh of 13 years) was adding megabases of genome sequence to public databases weekly, as large-scale DNA … a program that generated high-quality sequences of a reference set of cDNA clones  representing human and mouse …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… The NSIGHT program was developed from the advice of experts who attended the December 13-14, 2010 meeting, … Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome … Green Alan Beggs Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and Newborn …
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 have a number of key genomic processes in common, reflecting their shared … 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.
… facility 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 …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… Sheena Faherty, Ph.D. … The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will … Consortium , initiated in 2010 and funded by the National Human Genome Research Institute (NHGRI) and the National …