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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
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National … insights into the non-coding regions of the human genome. During the COVID-19 pandemic, NISC helped researchers … Consortium to help produce the first complete human genome sequence and a more diversely representative human …
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… said Carolyn Hutter, Ph.D., director of the Division of Genome Sciences at the National Human Genome Research Institute, part of NIH. NIH will provide … Ian Nova, Ph.D., program director in NHGRI’s Division of Genome Sciences. “Our continued exploration of RNA and its …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… protein’s function. But researchers at the National Human Genome Research Institute (NHGRI), part of NIH, found that a … to mutations. “While mutations occur naturally across the genome over millions of years of evolution, most of your … “There also may be something to be learned from PKR’s structure that could inform the design of more flexible …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… Ph.D., a postdoctoral fellow at the National Human Genome Research Institute (NHGRI), part of NIH, and an author of the study. “Only the chimpanzee genome sequence was fairly complete before this, but even … significant amount of new information. Only the chimpanzee genome sequence was fairly complete before this, but even …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Blood Advances , was led by researchers at National Human Genome Research Institute (NHGRI), part of NIH, The Johns …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… (NICHD) and senior investigator at the National Human Genome Research Institute (NHGRI) Center for Precision Health …
News Release
NIH researchers and their colleagues identified multidrug-resistant pathogens on the skin of residents in nursing homes. They found that these potentially dangerous microbes spread widely among residents, indicating a need for improved testing and infection control measures to protect people in nursing homes and other vulnerable populations.
… Segre, Ph.D., an investigator at NIH’s National Human Genome Research Institute (NHGRI) and co-senior author of the …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… study and clinical director at the NIH’s National Human Genome Research Institute (NHGRI). “For example, electronic …