Learning Center
FAQs & Glossary
Frequently asked questions
Glossary
- Allele
- One of two or more versions of a gene at a given location on a chromosome.
- Carrier
- A person who has one copy of a gene variant for a recessive condition, usually without symptoms.
- Chromosomal Microarray (CMA)
- A test that detects extra or missing chromosomal material.
- Exome
- The protein-coding portion of the genome.
- Germline
- Genetic material inherited from parents and present in every cell.
- Pharmacogenomics
- The study of how genes affect a person's response to drugs.
- Somatic variant
- A genetic change acquired in specific cells, such as tumor cells, and not inherited.
- Variant
- A difference in DNA sequence compared with a reference.
- VUS
- Variant of uncertain significance — a variant whose effect on health is not yet known.
- Whole Exome Sequencing (WES)
- Sequencing of all protein-coding regions of the genome.