Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.

Grant A. V., Boisson-Dupuis S., Herquelot E., de Beaucoudrey L., Filipe-Santos O., Nolan D. K., ...More

Journal of medical genetics, vol.48, no.8, pp.567-71, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 8
  • Publication Date: 2011
  • Doi Number: 10.1136/jmg.2011.089128
  • Journal Name: Journal of medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.567-71
  • Bursa Uludag University Affiliated: Yes


Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity.