Search Results
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… The Big Picture  Genomic variation reflects the differences in a person’s DNA … to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … if variants associated with dog body structure, behavior and life span could also be implicated in related human … sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … support research to identify differences - called genetic variants - in the less-studied regions of the genome that are … gene activity. A better understanding of these genetic variants should provide clues to understanding how diseases …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … study aims to learn more about the role of viral infection and biomarkers of the immune system in people with …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… NHGRI researchers work with patients, families and the scientific community to improve the informed consent … As public interest and expanded research in human genome editing grows, many … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 8:00 - 8:30 a.m. Registration 8:30 - 8:40 a.m. Welcome and Introduction Eric Green 8:40 - 9:00 a.m. Statement of … a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … Madison Room ) Determining the functional consequences of variants acting individually and in combination Co-Chairs: …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic discoveries. … which generated over 2.5 petabytes of publically available genomic data used by the cancer research community to improve … are integrating information about disease-causing genomic variants and insights about genome function to generate new …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients … by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… healthcare provider about how to best treat your condition and avoid side effects. … your family. It includes tests for the biological father and mother to see what genetic variants they carry. The tests can help parents and … a DNA sample (e.g., spitting saliva into a tube) and sending it to a company. The company can analyze your DNA …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … traits), syndrome, continental region of residence and genomic and molecular diagnosis. Previously, the only …