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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Massachusetts Institute of Technology 1:15 p.m. Multiplex Genomic Recording of Enhancer and Signal Transduction … Landscape of Essential Human Genes with Image-Based Pooled Genomic Screens Paul Blainey, Ph.D. Broad Institute of MIT … Massachusetts Institute of Technology 11:05 a.m. Multiplex Genomic Recording of Enhancer and Signal Transduction …
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… has been a gamechanger in genomics. However, new genomic methods and technologies are still needed to advance … the human genome, including deepening our understanding of genomic variants and their functions. Initially focused on … expanded and now supports the development of additional genomic technologies. These technologies help scientists …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Prabarna Ganguly, Ph.D. … The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 … $185 million over five years to the Impact of Genomic Variation on Function (IGVF) consortium, initiated … IGVF consortium investigators will work to understand how genomic variation alters human genome function, and how such …
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.
… Kundaje, Ph.D. , Stanford University Machine learning for genomic discovery    12:00 p.m. - Gregory Cooper, M.D., … of Pittsburgh Personalized Causal Machine Learning Using Genomic Data    12:25 p.m. - Q&A Session 12:55 p.m. - Break … , University of Wisconsin 4:00 p.m. - Adjourn … NHGRI Genomic Data Science Working Group Carolyn Hutter Valentina …
Event
The Advances in Genomic Technology Development (AGTD) 2023 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) in-person and virtually from Tuesday, June 6, until Thursday, June 8, at The Sanford Consortium for Regenerative Medicine, La Jolla, CA.
… Massachusetts Institute of Technology 9:45 a.m. Multiplex Genomic Recording of Enhancer and Signal Transduction … Landscape of Essential Human Genes with Image-Based Pooled Genomic Screens Paul Blainey, Ph.D. Broad Institute of MIT … Mark Adams, Ph.D. The Jackson Laboratory … The Advances in Genomic Technology Development (AGTD) 2023 Annual Meeting was …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… the National Cancer Institute. I was in the Laboratory of Genomic Diversity, where my group developed new technologies and … where they needed someone knowledgeable about developing genomic technologies, and I had that expertise. … Soo: Were …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… assessment of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain … and Health Services Research Return of secondary genomic findings: Experiences of sickle cell disease research … Hall 3:00 p.m. — 4:45 p.m. Omics Technologies Population diversity and selection if recent gene populations detected …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… Sarah A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National Human Genome Research … data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide … for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Sugden Understanding ableism in abstracts for genetic and genomic autism research PB2437 Erin Mansell Optimizing … in patients with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… with program directors for the Centers of Excellence in Genomic Science (CEGS) Research Program in NHGRI's Division … Science AMA, CRISPR, CRISPR-Cas9, Centers of Excellence in Genomic Science, CEGS, Lisa Brooks … NHGRI hosted a CRISPR …