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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Human Genome Reference Program (HGRP)2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
The Genomics Landscape
In June 1, 2023, edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the NHGRI-funded Human Pangenome Reference Consortium releasing a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference.
… Projects, and an Organizational Center. … Arang Rhie, Adam Phillippy, and Sergey Koren of NHGRI's intramural Genome …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… Orlando, M.D. Geisinger Health System — Danville, PA Adam Buchanan, M.P.H. Indiana University School of Medicine …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… was such an arduous task. A feature on NHGRI researcher Adam Phillippy reflects on his early life and career as well …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… biggest surprise was how organized the repeats are,” said Adam Phillippy, Ph.D., a senior investigator at NHGRI and …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.