| Term |
Definition |
Notes / Related Terms |
| Gene |
A segment of DNA that contains instructions for building proteins and influences specific traits or biological processes. |
Variants, Gene Expression |
| Allele |
A version of a gene or genetic location inherited from each parent. Differences in alleles contribute to human variation. |
Gene, SNP |
| Variant / Genetic Variant |
A small difference or change in a DNA sequence. Variants can influence how genes function but are not inherently “good” or “bad.” SNPs are a type of genetic variant. |
Gene, SNP |
| Raw DNA file |
The unprocessed genetic data exported from a DNA testing service. |
Can be uploaded to SelfDecode for analysis; formats accepted include .txt , .csv , .zip , .gz , .vcf . |
| SNP |
Single Nucleotide Polymorphism; a variation in a single DNA building block |
Used in polygenic risk scoring |
| Polygenic Risk Score (PRS) |
A score that combines the effects of many genetic variants to estimate a person’s genetic predisposition for a particular trait or health condition. |
Genetics, Risk Assessment |
| Genotype |
The genetic makeup of an individual at a specific location in the genome |
See also Phenotype |
| Phenotype |
Observable traits or characteristics influenced by genotype |
Genetics |
| DNA |
Deoxyribonucleic acid; the molecule carrying genetic instructions |
Genetics, SNP |
| rsID (Reference SNP ID) |
A unique identifier assigned to a specific SNP (Single Nucleotide Polymorphism) in the genome, used to track genetic variations across studies and databases. |
Example: rs6265 in the BDNF gene; helps simplify genetic reporting and interpretation. |
| Genetic Predisposition |
The likelihood of developing a condition based on your genetic makeup. Having a predisposition does not guarantee you will develop the condition. |
Variant, PRS |
| Gene Expression |
The process by which information from a gene is used to produce a functional product, such as a protein. Gene expression can be influenced by lifestyle, environment, and other factors. |
Gene, Genetic Predisposition |
| Reference Genome |
A standardized model of human DNA used for comparison in genetic studies. |
Reference Allele
|
| Reference Allele |
The version of a DNA sequence found in the reference genome; used as a baseline for comparison. |
Alternative Allele, Major Allele |
| Alternative Allele |
A version of a DNA sequence that differs from the reference allele. |
Reference Allele |
| Major Allele |
The most common version of an allele found in a population. |
Minor Allele |
| Minor Allele |
The less common version of an allele found in a population. |
Major Allele |
| ACMG (American College of Medical Genetics and Genomics) |
The leading professional organization for the entire medical genetics team in the U.S., providing standards, guidelines, education, and advocacy to improve patient care and advance the field of medical genetics and genomics, making it crucial for standardizing testing, interpreting variants, defining genes, and shaping policy for genetic diseases. |
Whole Genome Sequencing, Genotyping, DNA test |
