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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.48, sa.8, ss.567-571, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 8
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1136/jmg.2011.089128
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.567-571
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.