BRIEF GLOSSARY OF GENETIC TERMS
Allele:
Mbp
Micro-satellite
Mini-satellite
Mutation
NGS
Phenotype
Physical map
Polymorphism
QTL
RFLP
RNA
SNP
Synteny
UTR
VNTR
One of several alternative forms of a DNA sequence at a specific chromosomal location (locus). At each autosomal chromosomal locus in a
cell two alleles are present, one inherited from the mother, the other from the father
DeoxyriboNucleic Acid - doublestrand
A polymorphic DNA segment at a known chromosomal location.
All exons from a genome together
The most likely order of DNA segments on the chromosome based on analysis of co-segregation of DNA markers in pedigrees.
The analysis of several hundreds of DNA markers (usually micro-satellites) which are more or less evenly spread over all of the
chromosomes, in collections of related individuals to look for linkage with a phenotype.
The combination of two alleles at a locus in an individual.
Genome-Wide Association Study
A series of alleles found at linked loci on a single chromosome (phase).
Two identical alleles on a given locus
Two different alleles at a given locus
Identity by descent. The situation where alleles in two or more individuals are identical because of common ancestry.
Identity by state. The situation where alleles in two or more individuals are identical due to coincidence or to common ancestry.
kilo base pairs (1.103 bp).
The tendency of DNA sequences to be inherited together as a consequence of their close proximity on a chromosome.
Linkage Disequilibrium: non-random association of alleles at linked loci
A unique chromosomal location defining the position of a particular DNA sequence.
Logarithm of the odds; measure of statistical likelihood that a genetic marker is associated through physical linkage with a gene causing or
contributing to a particular phenotype.
Megabasepairs (1.106 bp).
A locus consisting of tandemly repetitive sequence units the size of which is (arbitrarily) defined as 1-5 bp.
A locus consisting of tandemly repetitive sequence units the size of which is (arbitrarily) defined as 6 bp or more.
an alteration in the DNA sequence
Next Generation Sequencing
All physical and mental properties of an organism
The order of DNA segments on a chromosome as determined by molecular analysis of (large) DNA segments.
the existence of two or more alleles at a frequency of at least 1% in the population.
Quantitative Trait Locus; a gene that influences quantitative variation in a trait
Restriction Fragment Length Polymorphism
RiboNucleic Acid - singlestrand
Single Nucleotide Polymorphism
The location of loci on the same individual chromosome
Un-Translated Region (as in 3’UTR of a mRNA)
Variable Number of Tandem Repeats; a polymorphic micro- or minisatellite
WES
Whole Exome Sequencing
DNA
DNA marker
Exome
Genetic map
Genome search
Genotype
GWAS
Haplotype
Heterozygous
Homozygous
IBD
IBS
kbp
Linkage
LD
Locus
LOD score
2