Search Results
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… tests, or immunoassays, in which an antigen-antibody reaction is used to detect the antibodies. In contrast, lupus …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… and MYH11 , the gene encoding smooth muscle myosin heavy chain (SMMHC) (Liu et al., Science 1993). To study the fusion … transcription factor CBFb/PEBP2b and a myosin heavy chain in acute myelomonocytic leukemia. Science , …
Educational Resources
Transfer RNA (tRNA) is a small RNA molecule that participates in protein synthesis.
… between the messenger RNA (mRNA) molecule and the growing chain of amino acids that make up a protein. Each time an amino acid is added to the chain, a specific tRNA pairs with its complementary sequence …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… sequencing centers transitioned from Sanger-based (dideoxy chain termination sequencing) to 'second generation' (or …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… genetic variant that makes them more likely to have a bad reaction to the drug. Another example is the breast cancer …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.