Search Results
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 … sequence data. It also serves as a consensus coordinate system for reporting results. The genome reference is … a critical resource for the genomics community. The NHGRI Human Genome Reference Program (HGRP) provides funding for …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … investigators identified about 88 million sites in the human genome that vary among people, establishing a database … more than doubles the number of known variant sites in the human genome, and can now be used in a wide range of studies …
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.
… 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 this milestone and the … the genomic developments made since the end of the Human Genome Project and the importance of genomics in …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … person. Some children with mitochondrial disease receive immune therapies and some do not. The purpose of this study … disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … technology, developed by Children's National Health System, and published their results in the May 2018 issue of …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Dr. Peter McGuire in the MINI Section at NHGRI focuses on immune phenotyping of mitochondrial disease to better … SEM, Kalish H, et al. Comprehensive profiling of the human viral exposome in households containing an at-risk …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Thirty years ago, today, the Human Genome Project (HGP) officially launched. I was there … have been awarded one of the first center grants for the Human Genome Project by the then-named National Center for Human Genome Research. For that grant, I led a small research …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences … The original human genome reference sequence was generated by the Human …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
… about the role of viral infection and biomarkers of the immune system in people with mitochondrial disease by using the …