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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
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual … of sexual development, but other genes throughout the genome play a role. This complex process gives rise to the …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
For Teachers
The Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our lives.
… The Your Genome & You  infographic introduces the basics of genetics … lives. The infographic was designed by the National Human Genome Research Institute's Community Engagement in Genomics … PDF   Text in the infographic: Knowing about your genome helps you understand your health and supports your …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… Why was it so difficult to fully complete the human genome sequence? The Human Genome Project ended in 2003, but genomic researchers had not … yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive … —Eric Green, M.D., Ph.D., Director of the National Human Genome Research Institute  "We have made some exciting …
Infographic
The X chromosome is part of sexual development and many other biological processes, including how some cats get their distinctive coat colors.
… each DNA molecule is packaged into a long, thread-like structure called a chromosome . Most human cells contain 23 … of sexual development, but other genes throughout the genome play a role. This complex process gives rise to the … X chromosome gets condensed into a small, dense structure in the nucleus, and is called a Barr body. Because …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, which prevents … as "mut0". When mutations in the MUT gene change the structure of methylmalonyl CoA mutase but do not eliminate …