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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
For Patients and Families
La farmacogenómica combina la ciencia de cómo funcionan los medicamentos, llamada farmacologÃa, con la ciencia del genoma humano, llamada genómica.
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
…  is a repository of biomedical ontologies.  The PhenX Toolkit is an online catalog of well-established and vetted …
Fact Sheets
Un panorama general del instituto, las implicaciones sociales de la investigación genética, y conceptos genéticos complejos al público no cientÃfico.
Fact Sheet
Informed consent is more than a form; it’s a process. What does it involve?
… and comprehension can be achieved in a variety of ways.  Genomics research requires careful explanation about how the … researchers consider when obtaining informed consent for genomics research? In what ways can researchers obtain informed consent for large genomics projects?  Certain genomic concepts can be …
Fact Sheet
El consentimiento informado es más que un formulario; es un proceso. ¿Qué implica?
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… research process. … What is newborn screening? … How does genomics come into it? … Is the government planning to …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… provider can then give you individualized and specific education about how to: Check regularly for the disease. …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
News and Events
A collection of institute resources, background information, and points of contact for members of the press.
… Research Institute is the driving force for advancing genomics research at the National Institutes of Health (NIH), … agency in the world. By conducting and funding world-class genomics research, training the next generation of genomics experts, and collaborating with diverse communities, …