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- What are single nucleotide polymorphisms (SNPs)? What are genome-wide association studies? What is pharmacogenomics? What are genome editing and CRISPR-Cas9? ...
- Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. These episodes can be triggered by exposure ...
- What is precision medicine? What is the difference between precision medicine and personalized medicine? What about pharmacogenomics? What is the Precision ...
- SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
- A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because ...
- VEXAS syndrome is a disorder involving episodes of fever and abnormal inflammation. VEXAS is an acronym that stands for the technical terms of key descriptors ...
- The DNA sequence of a gene can be altered in a number of ways. Gene variants (also known as mutations) can have varying effects on health, depending on where ...
- The CDIN1 gene provides instructions for making a protein called the CDAN1-interacting nuclease 1. This protein likely acts as a nuclease. Nucleases cut ( ...
- People have two copies of most genes, one copy inherited from each parent. In some cases, however, the number of copies varies—meaning that a person can have ...
- The KLF1 gene provides instructions for making a protein that acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and ...