Glossary

  • Allele

    Allele is an alternative form of a gene or SNP; another type of variant that is located at a specific position on a specific chromosome.

  • Average risk

    The average risk is based on the percentage of people who develop the condition during their lifetime and it is obtained from authoritative reports in the scientific literature.

  • Chromosome

    Chromosome is an organized structure of DNA and associated proteins in the nucleus of human cells that transmits hereditary information (genes) from one generation to the next. Humans contain 23 choromosome.

  • DNA

    Deoxyribonucleic acid (DNA) is a double stranded helical structure containing the complete set of instructions for all biological functions within the cell.

  • Gene

    Gene is a part of the DNA that contains information necessary for the synthesis of one protein. Any changes or alternations to genes often result in changes in the phenotype (appearance, personality, condition susceptibility, metabolism type, etc.). In our report we have shown the names of all the investigated genes. If the name is “intergenic”, this means that there are no protein-coding genes close to the tested SNP.

  • Genome

    The genome is the complete genetic material of an organism that includes all the chromosomes and the genes.

  • Genome-wide association study (GWAS)

    A genome-wide association study is an approach that involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease.

  • Genotype

    Genotype is the genetic code (genetic makeup) of an organism at a particular position on the DNA/gene; the allele or nucleotide (A, T, G or C) combination found at the SNP in your DNA. Two alleles are shown because you inherit one from your mother and the other one from your father, and therefore they can be different. Your genotype is determined by the genetic test done in our CLIA-certified laboratory.

  • Genotyping

    Genotyping is the process that determines which genetic variants are possessed by a certain individual. It can be performed by different techniques depending on the variants of interest or the resources available. The analysis performed by OriginalGENE is genotyping and not sequencing.

  • Haplotype

    Haplotype is a combination of alleles at multiple linked sites on a single chromosome, all of which are transmitted together.

  • Heterozygote

    Heterozygote refers to having two different alleles for a single trait.

  • Homozygote

    Homozygote refers to having identical alleles for a single trait.

  • Magnitude

    The magnitude refers to the confidence of research evidence for the genetic marker and the associated result.

  • Minor allele frequency (MAF)

    This is the frequency of the less (or least) frequent allele in a given locus and a given population.

  • Nucleotide

    Nucleotides are the structural unit of DNA. They are composed of three subunit molecules: a nitrogenous base, a five-carbon sugar and at least one phosphate group - Adenine (A), Thymine (T), Guanine (G), Cytosine (C)

  • Odds ratio (OR)

    Odds ration (OR) is the statistical possibility that a person with a given genotype may have the condition compared to people with common genotype. An OR greater than 1 indicates an increased risk and an OR less than 1 indicates a decreased risk.

  • Phenotype

    Phenotype is an observable physical or behavioral characteristic of an organism. It is determined by both the genotype and the environmental factors.

  • Risk

    Risk is the probability one will develop the given condition. It is calculated based on the genetic markers tested and the average population risk

  • Sequencing

    Sequencing is the process of determining the correct order of the nucleotide in a given fragment of DNA. You can sequence a short fragment, the whole genome or parts of the genome.

  • Single nucleotide polymorphism (SNP)

    Single nucleotide polymorphism (SNP) is a specific variant in an individual’s DNA, a site within the genome that differs by a single nucleotide base across different individuals. Example: AAGCCTA - AAGCTTA