| Term |
Definition |
Notes / related terms |
| Gene |
A segment of DNA that contains instructions for building proteins and influencing specific traits or biological processes. |
Variants, Gene Expression |
| Genome |
Your complete set of DNA, including all genes and non-coding regions. |
|
| 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 in a DNA sequence. Variants can influence how genes function but aren't 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. Accepted formats: .txt , .csv , .zip , .gz , .vcf |
| SNP |
Single Nucleotide Polymorphism; a variation in a single DNA building block (nucleotide). |
Used in polygenic risk scoring; SelfDecode analyzes 200 million genetic variants. |
| Polygenic Risk Score (PRS) |
A score that combines the effects of many genetic variants to estimate your genetic predisposition for a particular trait or health condition. |
Genetics, Risk Assessment |
| Genotype |
Your genetic makeup at a specific location in the genome. |
See also Phenotype. |
| Phenotype |
Observable traits or characteristics influenced by your genotype and environment. |
Genetics |
| DNA |
Deoxyribonucleic acid; the molecule that carries the genetic instructions for life. |
Genetics, SNP |
| rsID (Reference SNP ID) |
A unique identifier assigned to a specific SNP in the genome, used to track genetic variations across studies and databases. |
Example: rs6265 in the BDNF gene; simplifies genetic reporting and interpretation. |
| Genetic Predisposition |
The likelihood of developing a condition based on your genetic makeup. Having a predisposition doesn't guarantee you will develop the condition. |
Variant, PRS |
| Gene Expression |
The process by which the information in 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 medical genetics teams in the U.S., providing standards, guidelines, education, and advocacy to improve patient care and advance the field of medical genetics and genomics. |
Essential for standardizing testing, interpreting variants, and shaping policy for genetic diseases. |
| Allele Frequency |
How common a particular allele is in a given population. |
|
| INDEL (Insertion/Deletion) |
A type of genetic variation where bases are inserted or deleted. |
|
| Imputation |
Predicting genetic variants that weren't directly tested, based on the variants that were tested. |
|
| Haplotype |
A group of genetic variants inherited together as a block from a parent. |
|
| Base Pair |
The building blocks of DNA (adenine, thymine, cytosine, and guanine). |
|
| Homozygous |
Having two identical alleles for a specific gene — for example, AA or GG. Homozygous genes may strongly influence a trait because both copies are the same. |
|
| Heterozygous |
Having two different alleles for a specific gene — for example, AG. Heterozygous genes can result in intermediate traits or influence how a trait is expressed. |
|
| Protein |
The working molecules in your body that carry out the instructions written in your genes and are responsible for most biological functions. |
|
| Amino Acids |
The raw materials your body uses to make and repair proteins. |
|
| Whole Genome Sequencing |
A method of reading your entire genetic code — all 3 billion base pairs — in one comprehensive analysis. It provides the most complete picture of your DNA and can detect rare or complex variants that other testing methods may miss. |
WGS, Whole Genome Scanning, Genotyping |
| Whole Genome Scanning |
The full analytical process that makes SelfDecode unique. While sequencing reads your raw genetic code, scanning is what transforms that data into meaningful insights — cross-referencing your variants against hundreds of thousands of scientific studies, generating personalized health reports, and producing actionable recommendations tailored to your DNA. It's not just about what's in your genome; it's about what it means for you. |
WGS, Whole Genome Sequencing, Genotyping |
| Genotyping |
The process of identifying specific genetic variants at targeted locations in your DNA. SelfDecode uses genotyping combined with imputation to analyze hundreds of millions of variants and generate your health reports. |
WGS, Whole Genome Sequencing, Whole Genome Scanning |
