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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
About Genomics
Educational resources that will spark scientific curiosity, improve genomic literacy, and foster engagement among learners.
… genomic literacy, and foster engagement among learners. … About Genomics …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference … News: Human ‘pangenome’ published, with goal of making genomics more useful for diverse populations NewScientist : … diversity than the previous reference sequence. … About Genomics …
Policies and Guidance
Frequently Asked Questions regarding the Update to NIH Management of Genomic Summary Results Access.
… Frequently Asked Questions regarding the Update to NIH Management of Genomic … Allele frequency information is used in the fields of Genomics, Population Genetics, and Clinical Genetics to help … DNA code of a single participant, rather than calculations about the patterns seen across a group of people. … NIH has …
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.
… is gratifying to reflect on the amazing metamorphosis of genomics over the last two decades, especially with respect … issues and challenges associated with engaging the public about genomics and genomic medicine. Her efforts will also … learns about his ancestry on PBS’ Finding Your Roots Seven questions for a rare disease warrior Genome: Unlocking Life's …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… Reliable Health Information Online … What do we know about heredity and colon cancer? … Is there a test for hereditary colon cancer? … About Colon Cancer … Colon cancer is a malignant tumor of the …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… mountains of Sardinia, Italy, and discovered in it clues about the migration of humans to the area. (A genome is an … Ph.D., chief of NHGRI's Cancer Genetics and Comparative Genomics Branch . "Understanding the geographical origins of … isolated groups, adding it to a growing body of research about dogs. For years, Dr. Ostrander and other researchers …
Policies and Guidance
Frequently Asked Questions regarding the GDS Policy expectations for NHGRI-funded genomic research.
… Frequently Asked Questions regarding the GDS Policy expectations for … NHGRI determined it was most appropriate to encourage the genomics community to use data sources that are explicitly … Directors as early as possible. For other questions about submitting data under the GDS Policy, NHGRI's …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… Bruce Agnew … Although many doctors are wary about discussing weight loss with their overweight patients - … be a downside, of course. Healthcare providers who discuss genomics and behavioral risk factors with overweight mothers … was controlled by a research assistant and took no questions.) Afterward, participants completed a post-test …
Genetic Disorders
Breast cancer is the second most common cancer in women after skin cancer.
… for a small fraction of breast cancers. In Learning About the BRCAX Study , researchers discuss a recent advance … mutation." Positive test results only provide information about the risk of developing breast cancer. The test cannot … effective in preventing breast cancer. … What do we know about heredity and breast cancer? … What do we know about …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… vision and compensate for improper turning of the eyes. In about 80 percent of cases of DS, only one eye is affected, … the reverse occurs when looking outward toward the ear. About 78 percent of all DS cases are Type 1. Type 2: The … the eyeball pulls in when looking inward toward the nose. About 7 percent of all DS cases are Type 2. Type 3: The …