A glossary of common molecular genetics terminology.
A chromosome aberration refers to a change in the DNA of an organism. This can be a deletion, insertion, duplication or inversion.
An abnormal number of chromosomes
- Association study
Study undertaken to assess the association between DNA variants and disease.
- CNV quality control (QC) sheet
This details the many QC stages undertaken on each sample at each stage of the experimental process.
- CNV specification sheet
Provides a comprehensive list of the technical specifications associated with the CNV application.
- Copy number variation
This is described as gains and losses of pieces of chromosomal DNA sequence.
- De novo CNV's
De novo CNVs can be caused by genomic rearrangements such as deletions, duplications, inversions, and translocations. A de novo CNV is a CNV that has not been inherited.
A genetic aberration in which part of a chromosome or DNA sequence is absent
Refers to a duplication of a region of DNA.. In some cases a whole chromosome may be duplicated.
- Gamete complementation
The fertilisation of a gamete with two copies of a chromosome by a gamete with no copies of the same chromosome
The development of the male and female germ cells
- Genetic variant
A genetic variant refers to a change in part of our genomic DNA. Genetic variants have been associated with susceptibility to certain diseases e.g. increased risk of stroke, diabetes etc.
When a child receives two different copies of a chromosome from one parent
Variations within normal chromosomes, especially in the (peri)centromeric regions
- High throughput microarray service
A state-of-the-art automated oligonucleotide microarray service, giving rapid turnaround time and rigorous quality control, with a sample throughput to suit your project - from 1 to 1000s of samples per week.