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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
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … … scleroderma and podoconiosis). MCIDGB researchers analyze genomic data to document and interpret the non-random … informs disease distribution and etiology. Through large genomic initiatives, such as the Human Heredity and Health in …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… explain how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the … type of cancer will progress , find disease-causing genomic variants and identify genetic disorders by examining … disorders and their severity, and to understand how genomic information influences decision-making.  View video …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… pigmentation, researchers could learn about the underlying genomic alterations that were responsible for difference in … populations, we can identify novel and underappreciated genomic alterations and pathways," said Stacie Loftus, Ph.D. … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Jobs at NHGRI
NHGRI is seeking a postdoc to join the Systems Biology and Genome Engineering Section in Bethesda, Maryland.
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic … to untangle the complexities of the genome and uncover genomic associations with health and disease. Members of the … new computational methods and leveraging emerging genomic technologies, the center has dramatically improved …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… or production of tumors-tumorigenesis-can result from genomic alterations that are inherited or alterations that are acquired and accumulate over time. Some of these genomic changes drive tumor initiation, growth and … use state-of-the-art sequencing methodologies to uncover genomic alterations that drive tumorigenesis. They search for …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … These studies provide more accurate information about the genomic variants within 622 medically relevant genes. … studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs. Such insights …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… way of practicing is not without its challenges. With more genomic advances in the medical arena comes a wider gap in … new grants - the Institutional Training Grant Program in Genomic Medicine - to cultivate leaders in the field of genomic medicine. The five-year grants, totaling …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… involved in several other big projects looking at human genomic variation. Early in the Human Genome Project, even … draft, we were already talking about how we needed to find genomic variants and then start studying those variants and … opened up many possibilities to look at all human genomic variation, not just single-nucleotide variants, but …