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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… from different geographical regions. … Ancestry, Genome, Family Health History, Genotype, DNA Sequence … …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… The National Human Genome Research Institute (NHGRI) sponsored the meeting …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
… to an increase in the number of copies of a gene in a genome. Cancer cells, for example, sometimes produce multiple …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… … Late last month, I attended the annual Advances in Genome Biology and Technology (AGBT)  general meeting. The … – in one way or another – busily involved in the Human Genome Project. Having now attended all 21 AGBT general … will mark the 30th anniversary of the launch of the Human Genome Project (HGP). To commemorate this historic …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) consortium has … in June 2023. Over the past two decades, the power of genome sequencing has become evident in disciplines like … one of the most relevant areas for humanity is the use of genome sequencing in medicine; that is, genomic medicine (a …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… suspects, and victims of crimes and disasters. … Your genome is the operating manual containing all the … And it’s unique to you. The more you know about your genome and how it works, the more you'll understand your own … in the highly structured and tightly packed nature of the genome. … Genomes are made of DNA, an extremely large …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… The National Human Genome Research Institute (NHGRI) has produced this series of … Genomics, Deoxyribonucleic Acid (DNA), DNA Microarray, DNA Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y Chromosome … Fact sheets explaining …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… ethical responsibilities, as information about a person's genome sequence is associated with complex issues related to … about how they will use and share the resulting genome-sequence data in the process of gaining such informed … increasingly help researchers process vast quantities of genome-sequence data to look for hidden patterns in DNA. …
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.
…            A post shared by National Human Genome Research Institute (@nhgri_nih)      View this … 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 …