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- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… took the practical approach of using the best-available technologies for sequencing DNA and pushing them to their absolute limits. In the end, it delivered a remarkably high-quality human genome sequence that was nearly complete, …
About Genomics
RNA sequencing and the detection of RNA modifications have recently gained significant attention in the genomics community. New genomic methods and technologies are still needed to advance basic and clinical research into human biology and disease.
… to study RNA are becoming a standard part of the tools and technologies used in genomics! For example, by sequencing RNA and studying its many modifications, … — Eric Green (@NHGRI_Director) May 28, 2024 … RNA sequencing and the detection of RNA modifications have …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Agency for Health (called ARPA-H). ARPA-H aims to conduct high-impact biomedical and health research with a mission “to … sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it … NISC has experienced radical shifts in DNA sequencing technologies, research approaches, and data analysis methods, …
Educational Resources
Cloning is the process of making identical copies of an organism, cell, or DNA sequence.
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will … NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, Genome Sequencing, Secondary …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… sequence, these dedicated researchers created resources, technologies, policies, and a way of pursuing biological … the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of … biomedical research. The International Human Genome Sequencing Consortium committed to rapid data sharing , …
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.
… National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common … cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities for …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… gene was not identified by solely using whole exome sequencing. The DCC will manage data release and disseminate … and an increased focus on the application of new technologies, sequencing strategies and analytical approaches. … The GREGoR …