Search Results
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 …
Strategic Vision
Staff within the institute and colleagues in the genomics community organized and contributed to the >50 events associated with the strategic planning process (e.g., town halls, dedicated workshops, conference sessions, and webinars) and provided critical feedback.
… Di Francesco NHGRI Carla Easter NHGRI Elise Feingold NHGRI Adam Felsenfeld NHGRI Dave Kaufman NHGRI Elaine Ostrander NHGRI Bill Pavan NHGRI Adam Phillippy NHGRI Anastasia Wise NHGRI … Name Organization … Lawrence Berkeley National Laboratory Ann Pennington NHGRI Adam Phillippy NHGRI Natalie Pino NHGRI Rudy Pozzatti NHGRI …
News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… both research and patient genome sequences,” said Adam Felsenfeld, Ph.D., NHGRI program director in the …
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 …
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 …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… … Working Group Chairs Description Adult Actionability Adam Buchanan Katrina Goddard Identify those human genes … Consent and Disclosures Recommendations Committee (CADRe) Adam Buchanan Miranda Hallquist Kelly Ormond Develop …