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Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies. … It … Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic Technology … Genomic …
Educational Resources
A proband is an individual being studied or reported on.
… reported on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… clinical research. Trainees also gain broad newborn screening experience at referral centers serving the … System in Baltimore, MD, and the State of Maryland Newborn Screening Laboratory. … Three months of rotations will be at … genetics laboratory, two weeks at the Maryland Newborn Screening Laboratory, one month of clinical research at NIH …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… new visualization tools to assist in the use of ENCODE's large datasets. The project's latest results were published … for the institute. "This means that we need to test a large and diverse number of biological samples to work …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… two new research centers, including a Model Organisms Screening Center and a Metabolomics Core, as part of the NIH … addition to two DNA sequencing centers, a Model Organisms Screening Center, a Metabolomics Core, a central … diseases at the NIH Clinical Center. Model Organisms Screening Center At the Model Organisms Screening Center, …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be particularly … entitled Genomic Medicine XV: Genomics and Population Screening . The meeting discussed the current state of …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… HapMap, Human Genome Project … Population genomics is the large-scale application of genomic technologies to study …
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… analyses on them there lowers the barrier to performing large-scale computational research by eliminating the need to … and reproduction, disability, LGBTQ+ individuals, genetic screening, social and behavior genomics, and legacies of …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… Studies  Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data … vulnerable or marginalized groups. NHGRI recognizes that methods for de-identification of qualitative and other data …