Glossary

SNP

A point in the genome where a single letter differs between individuals. Genomic tests read thousands of them at the same time.

Panel

The set of SNPs read in a test. A 50K panel means approximately fifty thousand SNPs are read.

Genotype

An animal's genetic makeup at the points read on the panel. It is the raw test output.

Phenotype

An animal's observed trait — measured values such as milk yield, birth weight, and somatic cell count.

Heritability (h²)

The proportion of the variation in a trait that is due to genetic causes.

Breeding value

An estimate of the genetic superiority an animal will pass on to its offspring; it is the transmitting capacity, not the animal's own performance.

Genomic breeding value

The version of the breeding value estimated directly from genotype data; it can be calculated at an early age.

Accuracy

A measure of how close the estimate is to the true value; expressed between zero and one.

Reference population

The group of animals whose genotype and phenotype are both known, and from which the prediction model learns.

Composite index

The combination of multiple traits, using economic weights, into a single ranking number.

Relatedness coefficient

The proportion of genes two animals share in common; controlling it in mating limits the increase in inbreeding.

Inbreeding

The genetic narrowing that results from mating related individuals; it can lead to loss of performance and robustness.

Causal variant

The genetic change that directly causes the trait or defect.

Linked marker

A marker inherited together with the causal variant because it is located near it. The linkage can weaken depending on the population, which is why we show it separately in our reports.

Call rate

The proportion of markers on the panel that can be read successfully; if it is low, the sample or read quality is insufficient.

PCR / qPCR

Detection of a target DNA/RNA sequence by amplifying it. Real-time (q)PCR also provides quantity information.

Limit of detection

The lowest amount of an agent at which a test can reliably give a positive result.

Internal control

A control that verifies the reaction worked technically; if it fails, the result is considered invalid.

GWAS

A genome-wide association study. It scans for genome regions that are statistically associated with a trait.

GBLUP

A family of statistical methods commonly used in genomic breeding value estimation.

Pharmacogenomics (PGx)

The field that studies how a person's genetic makeup affects their response to drugs.

Clinical exome

The sequencing and evaluation of the protein-coding, clinically interpretable regions of the genome.

The definitions are taken from Appendix A of the Vethia service catalogue and carry the same meanings in our reports.