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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
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 …
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 …
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 …
Jobs at NHGRI
NHGRI is seeking a postdoc to join the Systems Biology and Genome Engineering Section in Bethesda, Maryland.
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… but his accomplishments have already changed the way genomic scientists across the world approach genome … to complete the arduous process of putting the human genomic puzzle together. He excelled at Loyola College. In a … a renowned computational biologist at The Institute for Genomic Research. In 2000, the field of genomics was still …
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 …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… This non-invasive blood test, combined with advances in genomic medicine, has many predicting that prenatal whole …
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.
… and middle-income nations. Advances in human genetics and genomic research now make it possible to prevent, diagnose … healthcare professionals trained in Medical Genetics and Genomic Medicine, available to address this burden. This … is the fact that many of these countries lack training in genomic research and medicine in their graduate and medical …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and … best interests of the child, pediatricians must recommend genomic sequencing when necessary for diagnosis whether or … Pediatricians must disclose the presence of genomic variants that can immediately help guide treatments. …