| Term |
Definition |
Notes / Related Terms |
| Gene |
A segment of DNA containing 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 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. 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 combining the effects of many genetic variants to estimate your 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 your genotype and environment. |
Genetics |
| DNA |
Deoxyribonucleic acid; the molecule carrying 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 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 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 were not directly tested, based on 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, 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. |
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