Search Results
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… in the field of pharmacogenomics  study how specific variants in your genome sequence influence your response to … a result, there are at least 18 pharmacogenomic tests for variants in ABCB1  listed in the NIH's Genetic Test … Registry , with suggestions that you be tested for these variants to help determine the correct dose for certain …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a … surveying the genomes of many people, looking for genomic variants that occur more frequently in those with a specific … to those without the disease or trait. Once such genomic variants are identified, they are typically used to search …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others … disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians develop … variable sites identified, about 12 million had common variants that were likely shared by many of the populations. …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is … particularly important because a very small set of these variants are linked to differences in various physical … Project helped pinpoint the actual combination of genomic variants that determine eye color. In fact, at least ten …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They may just be "tagging along" with the actual causal variants. For this reason, researchers often need to take …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… Many of the studies point to new associations of genetic variants with a number of conditions and disorders, such as … variants associated with fibrocystic breast disease and non-alcoholic liver disease. They also showed that non-obesity related FTO variants had potential ties to …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… Medicine facility will provide sequencing of the protein-coding portion of the genome, or exome. The clinical … for patients by analyzing DNA sequence, which can reveal variants in patients' genome that may be the cause of a … model, researchers will evaluate the role that six gene variants play in loss of function of the gene that codes for …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 … funded projects are focused on discovering genes and gene variants with clinical implications by using the latest … whether rare and common variants found in the protein-coding regions of 25,000 individuals' genomes are associated …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Berlin Massively parallel characterization of variants and elements impacting transcriptional regulation in … Cancer Institute Molecular phenotyping of ~100,000 coding variants across Mendelian disease genes HG011989 Gary … Working with the IGVF, we will focus on understanding how non-coding variants and genetic architecture influences …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… support research to identify differences - called genetic variants - in the less-studied regions of the genome that are … by the National Human Genome Research Institute (NHGRI)'s Non-Coding Variants Program and the National Cancer Institute …