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

Grant, Audrey; Boisson-Dupuis, Stephanie; Herquelot, Eleonore; de Beaucoudrey, Ludovic; Filipe-Santos, Orchidee; Nolan, Daniel; Feinberg, Jacqueline; Boland, Anne; Al-Muhsen, Saleh; Sanal, Ozden; Camcioglu, Yildiz; Palanduz, AYŞE; Kilic, Sara; Bustamante, Jacinta; Casanova, Jean-Laurent; Abel, Laurent

doi:10.1136/jmg.2011.089128

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, Scopus)

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.