n South African Medical Journal - Genomics in medicine : from promise to practice : editorial

Volume 105, Issue 7
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



The culmination of the Human Genome Project, with the publication of two 'reference' genomes, introduced the genomic era.

Before this, human genetics concerned itself with techniques to analyse the chromosomes (cytogenetics) and to detect the genes causing Mendelian diseases such as cystic fibrosis or sickle cell anaemia (molecular genetics), and was largely the preserve of human geneticists. Genetic testing was accurate, but slow and costly. Chromosome analysis was limited by its low resolution (a DNA deletion of 5 million base pairs of DNA may be undetectable), and molecular genetics by the inability to sequence more than a few hundred DNA bases ata time.

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