We realize that not everyone has a degree in genetics, which is why we've included here a basic glossary of terms for you to understand when using our product. If at any point we use a word that you don't understand, let us know and we'll add it here!


Genotype — the variant forms of a gene carried by an individual (one per parent)

Haplotype – linked variants along a chromosome inherited from one parent.

Alleles or Variants — alternate forms of a genetic sequence (or polymorphism).

Recessive — variants whose effects are masked if one copy of the allele is present.

Dominant — variants whose effects require only one copy of the allele.

Heterozygous — when an individual has two different alleles for a trait.

Homozygous — when an individual has two identical alleles for a trait.

Phenotype — expression of a genotype (outward appearance).

Locus – the location of a gene or DNA sequence (plural: loci).

SNP – single nucleotide polymorphism, a type of genetic variant.

CNV – copy number variant (e.g. gene or sequence duplication).

Below are some resources for further exploring the world of genetics. Have fun!

Genetics on Wikipedia

Genomics on Wikipedia

Scitable by Nature

Genetics Home Reference

Stanford Genomics Certificate

Learn Genetics (University of Utah)

Australian NSW Genetics Glossary

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