Glossary

Air flow into and around a piece of equipment is controlled to ensure that ozone levels (O3) are minimised, thus avoiding dye degradation and spurious results.

The process by which a molecule of nucleic acid is broken and then joined to a different one

A form of chromosomal rearrangement where there has been re-arrangement of the chromosomes 13, 14, 15, 21 or 22 in their short arms without any loss of genetic material

Inheritance of two copies of a region of a chromosome from one parent

Structurally abnormal chromosomes that cannot be identified by conventional banding alone, they can have different shapes and originate from each of the 24 chromosomes

This is a chromosome abnormality and occurs when DNA from non-homologous chromosomes are rearranged.

The presence in a cell of three copies of one specific chromosome

The loss of a chromosome from a trisomic zygote

Formation or production of tumors

Inheritance of two copies of a whole chromosome from one parent

Wellcome Trust Case Control Consortium.
The Wellcome Trust Case Control Consortium (WTCCC) was established with an aim to harness the power of newly-available genotyping technologies to improve its understanding of the aetiological basis of several major causes of global disease. Over the last year the consortium has gathered genotype data for up to 500,000 sites of genome sequence variation (single nucleotide polymorphisms or SNPs) in samples ascertained for the disease phenotypes listed in Table 1. Analysis of the genome-wide association data generated has lead to the identification of many SNPs and genes showing evidence of association with disease susceptibility, some of which will be followed up in future studies (Nature. 2007;447;661-78). In addition, the Consortium has gained important insights into the technical, analytical, methodological and biological aspects of genome-wide association analysis.