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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
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
… … Moving beyond this impasse and proving the usefulness of genomic medicine were among the thorny topics tackled June … interpreting genomic variants, handling genomic data, and diversity in research populations, to name a few. "We're in … have all sorts of quality levels of information, and most database submissions come from single labs with their own …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… diverse populations to engage communities around genomic science, to inform and share perspectives about genomic research, and to impact the focus of research. Guided … communities. Providing community perspectives about genomic research and science. Identifying potential areas of …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… centers whose research will focus on understanding the genomic bases of common and rare human diseases. … The … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart … Genomics (CMG), which will continue investigating the genomic underpinnings of rare, typically inherited diseases, …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… The NHGRI Genomic Medicine Working Group is a subcommittee of the … explores and advises on issues related to the adoption of genomic medicine. … The NHGRI Genomic Medicine Working Group arose from genomic medicine …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… the pathophysiology of childhood diseases. Traditionally, genomic studies in children have focused on rare Mendelian … underrepresented groups harboring an abundance of genomic diversity and unique clinical presentations. Our approach is … universal sickle cell-based knowledge representation. Database (Oxford). 2019 Jan 1;2019:baz118; PMID: 31769834 L …
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… genome biology and facilitating the implementation of genomic medicine." Genomics is now prevalent across the … attend to the ethical, legal and social implications of genomic advances. Much like all other scientific disciplines, … must improve in the coming decade. Some of the complex genomic issues discussed in the new vision relate to genetic …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… Messersmith, Ph.D., a health policy analyst with NHGRI's Genomic Healthcare Branch, which created the website. "Our goal now is to provide easy access to genomic resources produced by professional societies in … editorial board for quality and are mapped to published genomic competencies - the knowledge and skills a provider …
News Release
NHGRI, NMNH and the NIH Foundation will present a symposium on the future of genomics, health, and the impact of genomics globally.
… whose varied and evocative perspectives illuminate genomic advances in the coming decade and aspects of its … citizens in genetics testing and research, access to genomic testing, and clinical practices. Eric Green, M.D., …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… … What quickly became clear at the Global Leaders in Genomic Medicine meeting, held January 8-9 at the National … creating innovative programs and plans for implementing genomic medicine. … A goal of the two-day international … samples to build a national genetic variant reference database. At the end of day two, participants broke into …