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

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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.567-571, 2011 (SCI-Expanded)

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.567-571
Istanbul University Affiliated: Yes

Abstract

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.