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- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… function, and phenotype with machine learning HG012022 Mark Craven University of Wisconsin Linking variants to … Coordinating Center Awards J. Michael Cherry Mark Gerstein Benjamin Hitz Stanford University Yale …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Trey Ideker, Ph.D. , University of California San Diego Mark Craven, Ph.D. , University of Wisconsin Speaker: Eric … Trey Ideker, Ph.D. , University of California San Diego Mark Craven, Ph.D. , University of Wisconsin 5:00 p.m. - … Trey Ideker, Ph.D. , University of California San Diego Mark Craven, Ph.D. , University of Wisconsin Session 3: Data …
Policy Issues
The 9 steps a bill can go through before becoming a law, using the Genetic Information Non-Discrimination Act of 2003 as an example.
… refer a bill back to the full committee. Step 5: Committee mark up of the bill When the hearings and subcommittee review are completed, the committee will meet to " mark up " the bill. They make changes and amendments prior to …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… a similar question asked about her after she's made her mark on NHGRI's history in her own unique way. … Related …
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.
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
File
… Mark Craven GDSWG Report Council (February 2023) …
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.
… obesity. (Health Services Research) 2437W. Christopher J. Adams: Novel SOX10 variant causing Waardenburg syndrome … (Complex Traits and Polygenic Disorders) 1816W. David R. Adams: The NIH Undiagnosed Diseases Program approach to …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… . Nature Genet , 43:732-4. 2011. Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan C-C, Bernardini IM, … M, Wahl C, Yang S, Madeo A, Boerkoel CF, Tifft CJ, Adams D. The NIH Undiagnosed Diseases Program: Insights into … TM, Markello TC, Fuentes Fajardo KV, Holloman M, Golas G. Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional …
NHGRI Director
Subscribe to Dr. Eric Green’s monthly newsletter summarizing NHGRI and genomics highlights.
… not previously associated with any other human disease. Mark Guyer, NHGRI founding member and Deputy Director, hangs … occurred at NHGRI this summer. Founding staff member, Dr. Mark Guyer, formally retired from federal service on June 30. For most of his time at NHGRI, Mark was a key leader of the Extramural Research Program; …