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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
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… are voracious. Once they have consumed all the oxygen and nutrients in the original tumor site, the cancer cells travel to other parts of the body (metastasize) … Laura L. Baxter, Julia C. Cronin, Temesgen D. Fufa, NISC Comparative Sequencing Program and William J. Pavan. …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National … normal cellular process called programmed cell death, and cancer cell survival. They also made important discoveries …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be … chromosome map that shows the relative locations of genes and other important features. … Educational Resources …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… the most recent 'polar vortex' becoming a distant memory and with baseball's spring training now in full swing, we … guidelines developed by the American College of Medical Genetics and Genomics (ACMG). ClinGen has collected … diagnose inherited disorders and to target drug therapy in cancer. However, more robust aggregation of evidence for …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… are the DNA instructions you inherit from your mother and your father. … Genetic tests may be used to identify … hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… is a mutated gene that contributes to the development of a cancer. … Carcinogen, Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene … oncogene becomes mutated, it is called a proto-oncogene, and it plays a role in regulating normal cell division. …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming … criteria, adapted from the National Library of Medicine's Genetics Home Reference . Analytical Validity: Refers to how …
News Release
Four NHGRI researchers share the steps toward a career in genomics with 60 Brooklyn-area high school students.
… Findley's high school biology teacher made science fun and interesting, inspiring her to pursue a career in science. … Findley shared the steps she took towards her career in genomics with 60 Brooklyn-area high school students. She was … to map ancestry and the difference between genomics and genetics. (Left to right): Vence Bonham, Jr. J.D., Diego …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) designed to help …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… Steven Benowitz … Media Availability Researchers in The Cancer Genome Atlas (TCGA) Network have made a number of new findings about the biology and development of a rare form of kidney cancer. … They found that the disease - chromophobe renal …