Glossar: Heidelberg University Hospital

ATM	A gene that is responsible for the repair of DNA damage and whose alteration is associated with an increased risk of certain cancers.
Bases	The building blocks of DNA, consisting of adenine (A), thymine (T), cytosine (C) and guanine (G).
BRCA1/BRCA2	Genes that are responsible for repairing DNA damage and whose alteration increases the risk of breast and ovarian cancer.
Chromosome	A structure in the cell nucleus that contains genetic material.
Chromosome alteration	An abnormality in the structure or number of chromosomes that can lead to genetic disorders.
Colonoscopy	A medical procedure to examine the bowel for abnormalities or diseases using an endoscope (also known as a colonoscope, a type of camera).
DNA	The abbreviation for deoxyribonucleic acid, the carrier of genetic information in cells.
DNA analysis	The examination of DNA samples to obtain genetic information.
Single-gene disease	A disease caused by mutations (= changes in genetic information) in a single gene.
Embryo	A living being in the early stages of pregnancy, during the first eight weeks after fertilisation.
Ethics committee	A group of experts that reviews and advises on ethical issues in research or medical practice.
Exome	The totality of all exons of an organism.
Exome analysis	The analysis of exome sections to identify genetic variants.
Exon	The sections in a gene that are transferred to the messenger RNA. These are the sections of a gene that are important for its function.
Familial	A trait that is passed down within a family or kinship line.
Follow-up analysis	A repetition of an analysis of genetic data to include newly obtained data.
Gene	A section of DNA that contains the genetic information for a particular trait or characteristic of a living organism.
Genetics	The science that deals with heredity and genetic variations.
Genetic findings	The written results of a genetic test that indicate genetic variants or abnormalities.
Genetic counselling	A medical consultation that focuses on genetic risks, test results or family history.
Genetic testing	Tests that identify genetic changes.
Genetic code	The sequence of bases in DNA that defines genetic information.
Genome analysis	The examination of the entire genome for genetic changes. Means the same as genome sequencing.
Genome	The entire DNA sequence or totality of all genes of an organism.
Genome sequencing	The examination of the entire genome for genetic changes. Means the same as genome analysis.
Intron	Sections in a gene that are cut out to form a messenger RNA (mRNA). Introns are therefore the opposite of exons.
Artificial intelligence (AI)	The simulation of human intelligence in machines that are capable of performing tasks by recognising and structuring information from input data. These capabilities can either be based on predefined processes or acquired through machine learning.
Gastroscopy	A medical procedure to examine the stomach for abnormalities or diseases using an endoscope (a type of camera).
MRI	The abbreviation for magnetic resonance imaging (MRI) refers to a procedure that allows detailed images of specific organs to be produced.
Pathogenic variant	A genetic change that is associated with the development of a disease.
Preimplantation	A phase of embryonic development before implantation, i.e. before an embryo implants in the uterus.
Preimplantation genetic diagnosis (PGD)	A procedure for the genetic testing of embryos at the preimplantation stage.
RAD51C	A gene that is involved in DNA repair and is associated with an increased risk of certain types of cancer when altered.
Sequence	A sequence of DNA or RNA bases. The sequence contains the genetic code.
Sequencing	The process by which the order of bases (the sequence) in DNA or RNA is determined.
Standard genome	The normal sequence of the genome used as a standard for comparisons.
Ultrasound	An imaging technique used to examine structures in the body using sound waves.
Unclear variant	A genetic alteration whose clinical significance is not clear.
Additional finding	Additional (incidental) information or findings identified during a genetic test.