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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.