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Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … one generation to another. Genomics describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of genes and their roles in inheritance - in other words, the …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have struggled to know which of these inherited differences - variants - really matter. …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… and Introduction Eric Green 8:40 - 9:00 a.m. Statement of Meeting Goals Elise Feingold Adam Felsenfeld Part I: Setting the Stage Visions of the Future: What will the field of genomics look like in … a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the …
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 … compared to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… disorder. The results help to determine a person’s risk of developing the specific disorder being tested for. These … or rule out a suspected genetic disorder. The results of a diagnostic test may help you make choices about how to … your ancestry, kinship, lifestyle factors and potential disease risk. …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… then a postdoctoral research fellow in the laboratory of genomics pioneer Maynard Olson at Washington University School of Medicine. The university was fortunate to have been awarded one of the first center grants for the Human Genome Project by … and accomplishments from the institute and the field of genomics. …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… National Institutes of Health (NIH) researchers have identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … the gene variant that causes the disease using a genomic technique called whole exome sequencing. "Genome …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … and medical centers nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total … UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, which is generating a … resource used by many scientists to study human health and disease. … genome sequences and to understand the consequence of genomic variation," said Elise Feingold, Ph.D., a program …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … alterations that confer disease susceptibility." Using genomic techniques, the researchers combed the T cell genome …