Search Results
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 …
For Press
Pangenome Resources for Press
… HLA-A Gene from Pangenome (PDF) Credit: Adam Novak, Ph.D., UC Santa Cruz Banner Art: Pangenome Around … Producer: Sarah Bates, M.A., M.S., NHGRI Starring: Adam Phillippy, Ph.D., NHGRI Shelise Brooks, NISC Sergey …
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 …
Event
From 2020-2023, NHGRI director Eric Green, M.D., Ph.D. answered questions on Twitter using the hashtag #AskDrGenome and invited a special guest from NHGRI to join him, as a way to engage with members of the public who want to know more about particular genomics topics.
… Les Biesecker, Sara Hull, Ben Solomon, Vence Bonham, Adam Phillippy and Arang Rhie. This is a way to engage with …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… Name Institution Adam Buchanan Geisinger Health System Rizwan Hamid Vanderbilt …
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. Ferreira was 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 ® …
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
… Data Submission and Consortia Engagement Moderators: Adam Resnick, Ph.D. (Children’s Hospital of Philadelphia) and … 1:50 - 2:15 p.m. Reports Back From Session 1 Rapporteurs: Adam Resnick, Ph.D. and Marylyn D. Ritchie, Ph.D. 2:15 - 2:30 …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.