Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome Anne-Louise Leutenegger,

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Génin, Annick Toutain, Elisabeth Steichen, Françoise Clerget-Darpoux, Patrick Edery The American Journal of Human Genetics Volume 79, Issue 1, Pages 62-66 (July 2006) DOI: 10.1086/504640 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 FEstim-estimated inbreeding coefficient (F), SE, and 95% CI for the patients with Taybi-Linder syndrome and siblings. The median F value for each sibship and the reported parental relationships are also specified. The 95% CIs were computed as F±1.96 SE. The American Journal of Human Genetics 2006 79, 62-66DOI: (10.1086/504640) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 LOD score plots of FLOD (black lines) and HMLOD (dashed gray lines) over the whole genome (A), chromosome 2q (B), and chromosome 7q (C) for the Taybi-Linder syndrome data. On the genomewide plot (A), the chromosome numbers are written at the top. B and C, FLOD123 (solid gray lines) represents FLOD computed for patients 1, 2, and 3 and their available relatives only (not patient 4). The solid horizontal lines represent a LOD score of 3. The American Journal of Human Genetics 2006 79, 62-66DOI: (10.1086/504640) Copyright © 2006 The American Society of Human Genetics Terms and Conditions