Search Results
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Alvaro Encinas Subject Matter Review and/or Narration: Adam Politis Alyssa Jones Amalia Dutra Belen Hurle Ben …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2022.
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Illumina 9:25 AM – Panel Discussion Ali Crawford, Illumina Adam Kennedy, Metabolon, Inc. Tomi Pastinen, Children’s …
Event
On October 20, 2022, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", a program that explores the experiences of renowned African American biomedical researchers and physicians.
FAQ
On July 20, 2023, the National Human Genome Research Institute (NHGRI) hosted a pre-application webinar for the Human Genome Reference Program (HGRP) Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO): RFA-HG-23-026. We collected the questions and answers from the webinar to help applicants.
… between “infrastructure” and “user tools” please contact Adam Felsenfeld at adam_felsenfeld@nih.gov . NHGRI is interested in the topic of …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2024.
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… (Statistical Genetics and Genetic Epidemiology) 2045T. Adam R. Davis: Discovery of small RNA biomarkers of …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Calcification of Infancy . 2020 Dec 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® … CR . Saul-Wilson syndrome 2020 Feb 20. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® …