Search Results
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… 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 sequences to help detect genomic variants in each …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (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 …
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 responsible for regulating gene activity. A …
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 … About NHGRI and NIH … As genome-editing trials become more common, informed consent is …
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 … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … 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.
… The National Human Genome Research Institute (NHGRI) has appointed Carolyn … to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic … programs. Most recently, she co-managed The Cancer Genome Atlas (TCGA) - a collaboration between NHGRI and the …
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 based on … into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase …
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.
… Researchers with the National Human Genome Research Institute (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. …