Glossary of 20 key terms
The words that come up again and again, each defined in one plain line with an everyday example. Every term has its own link - search any single term and land directly here.
- DNAThe absolute basics
- The molecule that stores your genetic instructions, written in four letters: A, T, G, C.
- e.g. The 'paper and ink' your whole genetic recipe book is printed on.
- GeneThe absolute basics
- A section of DNA that carries instructions for one specific job, usually making a protein.
- e.g. One recipe in the book.
- GenomeThe absolute basics
- Your complete set of DNA — all your genes and everything in between.
- e.g. The entire recipe book, cover to cover.
- ChromosomeThe absolute basics
- A package that stores your DNA; humans have 23 pairs.
- e.g. The chapters the recipes are bound into.
- VariantHow inheritance works
- A small difference in a gene's spelling between people.
- e.g. Why you handle coffee differently from a friend.
- SNPGenetic testing 101
- A one-letter difference in DNA at a single position; the most common kind of variant.
- e.g. Pronounced 'snip'; the dots a DNA test reads.
- AlleleHow inheritance works
- One of the alternative versions of a gene you can carry.
- e.g. Brown-eye version vs blue-eye version.
- ProteinThe absolute basics
- The molecule genes instruct your cells to build; proteins do the body's work.
- e.g. The dish the recipe produces.
- MutationThe absolute basics
- A change in DNA; can be inherited or newly arising, harmful, harmless, or helpful.
- e.g. A typo in a recipe — usually trivial, occasionally important.
- InheritanceHow inheritance works
- How genetic information passes from parents to children.
- e.g. Why you have your mother's eyes.
- DominantHow inheritance works
- A variant that shows its effect even if you carry only one copy.
- e.g. One copy is enough to see the trait.
- RecessiveHow inheritance works
- A variant that shows its effect only if you carry two copies.
- e.g. Needs a copy from each parent to appear.
- CarrierHow inheritance works
- Someone with one copy of a recessive variant who is usually healthy themselves.
- e.g. Can pass it on without having the condition.
- EpigeneticsTraits & health
- Changes in which genes are switched on or off, without changing the DNA itself.
- e.g. The dimmer switches on your genes.
- HeritabilityTraits & health
- How much of the variation in a trait across people is explained by genes.
- e.g. Height is roughly 80% heritable.
- PolygenicTraits & health
- A trait or risk shaped by many genes together, each with a small effect.
- e.g. Height and most common diseases.
- Polygenic risk scoreGenetic testing 101
- A number summing many small genetic effects to estimate your risk for a condition.
- e.g. 'Above or below average', not a diagnosis.
- GenotypeThe absolute basics
- The specific set of variants you actually carry.
- e.g. Your version of the recipe book.
- PhenotypeTraits & health
- The observable result — your traits, how the genes actually show up.
- e.g. How the dish turns out on the plate.
- MicroarrayGenetic testing 101
- A chip that reads hundreds of thousands of DNA spots at once.
- e.g. The standard tool behind most consumer tests.