Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2812359 | The American Journal of Human Genetics | 2006 | 5 Pages |
Abstract
The use of inbred patients whose exact genealogy may not be available is of primary interest in mapping genes involved in rare recessive diseases. We show here that this can be achieved by estimating inbreeding coefficients from the patients’ genomic information and using these estimates to perform homozygosity mapping. We show the interest of the approach by mapping a gene for Taybi-Linder syndrome to chromosome 2q, with the use of a key patient with no genealogical information.
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Authors
Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Génin, Annick Toutain, Elisabeth Steichen, Françoise Clerget-Darpoux, Patrick Edery,