The Genomics Er a : the Future of Genetics in Medicine - Gloss a ry

Abstract

The glossary below provides a list of key terms used throughout the course. You do not need to read them all now; we'll be linking back to the main glossary step wherever these terms appear, so you may refer back to this list if you are unsure of the terminology being used. Term Definition Alignment The process of matching reads back to their original position in the reference genome. Allele An allele is one of a number of alternative forms of the same gene or genetic locus. We inherit one copy of our genetic code from our mother and one copy of our genetic code from our father. Each copy is known as an allele. Array CGH Microarray based genomic comparative hybridisation. This is a technique used to detect chromosome imbalances by comparing patient and control DNA and comparing differences between the two sets. It is a useful technique for detecting small chromosome deletions and duplications which would not have been detected with more traditional karyotyping techniques. Base A unit of DNA. There are four bases which form the cross links (or rungs) of the DNA double helix: adenine (A), thymine (T), guanine (G) and cytosine (C). Capture see Target enrichment. Cell differentiation The process by which a cell becomes specialized in order to perform a specific function.