Homozygosity mapping: One more tool in the clinical geneticist's toolbox

  title={Homozygosity mapping: One more tool in the clinical geneticist's toolbox},
  author={Fowzan S. Alkuraya},
  journal={Genetics in Medicine},
  • F. Alkuraya
  • Published 1 April 2010
  • Medicine, Biology
  • Genetics in Medicine
Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state. Although this is known to have an adverse outcome by increasing the risk of autosomal recessive disorders, this very phenomenon has also made homozygosity mapping the most robust gene discovery strategy in the recent history of human genetics. However, homozygosity mapping can also serve as an extremely powerful tool in the clinical genetics setting… 

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