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
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… DNA sequence.) The findings, by scientists at the National Human Genome Research Institute (NHGRI), part of NIH, and … recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary. Sardinian … Researchers have long recognized the benefit that isolated human groups can provide to genetic research. National …
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 …
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 …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
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 …