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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 Program7
- 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
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Dr. Adam Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome … of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the … over 200 million bases of additional sequence and enabling new studies of genomic function and disease. Dr. Phillippy …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… (NHGRI). She joined NHGRI's Extramural Research Program as a program director in 2018. Dr. Chadwick oversees a diverse … grants, which include the development of novel approaches for Mendelian gene discovery and the prioritization or … NHGRI’s GREGoR Program, which is working to develop new approaches to identify the causal variant in rare genetic …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… obtained his B.Sc. from the University of Caen, and a M.Sc. and Ph.D. from the University of Rennes, France. His … under Dr. Paul Meltzer at the University of Michigan for the study of sarcomas and solid tumors and then joined … K. High-throughput screening for the identification of new therapeutic options for metastatic pheochromocytoma and …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting … that should be integrated with genetic variant information in predicting risk Identify research directions in development and implementation of genomic risk prediction …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting discussed the current state of … in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical …
Event
On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems. Â
… Wednesday, August 31, 2022  Time Topic Speaker(s) 11:00 a.m. Welcome and Introductions   Overview of National … Osterman  Population-Based Clinical Decision Support for Precision Medicine (15 min) Guilherme Del Fiol  … min) 2:25 p.m. Break 2:55 p.m. Session 3: The Role of gLHS in Increasing Health Equity and Access to Genomic Healthcare …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… the meeting were to: Define currently available approaches for using host genomic information in the diagnosis, prevention, and treatment of infectious … identify needs, opportunities, and challenges for applying a patient’s genomic information (genome sequence, …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… Eric D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy … Casey Overby Taylor, Ph.D.  Inherent Racism Induces Bias in Algorithm Development: Can Implementation of Genetic …
Event
NHGRI sponsored the Genomic Medicine XI: Research Directions in Genomic Medicine Implementation meeting in La Jolla, California, September 5-6, 2018.
… meeting - Genomic Medicine XI: Research Directions in Genomic Medicine Implementation  - at the Hilton La Jolla Torrey Pines hotel in La Jolla, California. The objectives of the meeting were … California … Genomic Medicine XI: Research Directions in Genomic Medicine Implementation … NHGRI sponsored the …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) designed to help developing … that led to the development of a reference sequence for the human genome. This effort benefitted both medical … and the practice of medicine worldwide, as it provided new insights into the genetic contributions to disease. Many …