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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 …
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 …
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, …
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 …
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 …
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… news was worth waiting for! Overall, NIH was the recipient of an 8.8% increase (relative to Fiscal Year 2017), with … 19: NHGRI's 2020 Vision for Genomics " to listen. … The  Genome: Unlocking Life's Code  exhibition is currently … Award (in the Field of Medicine 2017) recognizes the Human Genome Project for its collaborative success that has …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… was the first NHGRI Director and appears here as part of our history collection. Despite his scientific … centers that make up the NIH. Now, with the human genome sequence complete since April 2003, scientists around the … as mirror images. July 2003: A detailed analysis of the reference sequence of chromosome 7, carried out by a …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the entire set of …