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Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… sequencing used today, called sequencing by synthesis, DNA polymerase (the enzyme in cells that synthesizes DNA) is used … strand of DNA from a strand of interest. In the sequencing reaction, the enzyme incorporates into the new DNA strand …
File
… Walter Gilbert GenBank First human disease gene — for The polymerase DNA-sequencing instrument human genetic Human … is issued methods established with DNA markers genome chain reaction (PCR) is invented developed map developed …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… the recommended amounts of leucine. Leucine is a branched chain amino acid essential to liver, muscle and adipose … in excess, it causes a depletion of the other branched chain amino acids, valine and isoleucine. This might have … cannot adequately synthesize the amino acid methionine, a reaction that depends on vitamin B12. As a result, management …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… have highlighted their role as a major node in this immune reaction.] The group also studies intermediary metabolism and … mtDNA replication and stability, or (E) the respiratory chain. Genes listed were compiled from MitoMap.] This … V. McGuire, P.J., Lee, P.R. Child neurology: Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… to convert the product of a single molecule DNA sequencing reaction into many copies of a reporter molecule that are … will study a system to sequence DNA using an enzyme (polymerase) on a carbon nanotube, in an array format. Carbon …
For Teachers
Lesson plan based on an award-winning DNA from the Beginning website, an animated primer on the basics of DNA, genes and heredity.
… copying the whole. How did the discovery of the enzyme DNA polymerase play in the understanding for the process of DNA … proved that base pairing was important for a self-splicing reaction in RNA? #27. Mutations are changes in genetic …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… Burkholder A, Fargo DC, Adelman K. Stable pausing by RNA polymerase II provides an opportunity to target and integrate … G, Fargo DC, Xie B, Gao Y, Li L, Adelman K. Pausing of RNA polymerase II disrupts DNA-specified nucleosome organization … R, Parker JS, Grissom SF, Zeitlinger J, Adelman K. RNA polymerase is poised for activation across the genome. Nat …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… appropriate and if a patient is at risk for an adverse reaction.     Pharmacogenomics is part of the growing medical … for that patient while minimizing the risk of an adverse reaction. … Who may benefit from pharmacogenomics? … may not be working who are experiencing an adverse reaction or side effect from a medication or have experienced …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… of the ENCODE pilot project. Antibodies that recognize RNA polymerase II and TAFII250, a component of a general … that initiates the preinitiation complex assembly for RNA polymerase II, should be bound to the promoters of all genes actively transcribed by RNA polymerase II. The RNA polymerase II antibody is available …
Educational Resources
An enzyme is a biological catalyst and is almost always a protein.
… a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. A cell contains thousands … enzyme molecules, each specific to a particular chemical reaction. … An enzyme is a biological catalyst and is almost …