Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
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ABSTRACT:
SUBMITTER: Leutenegger AL
PROVIDER: S-EPMC1474127 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
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Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
Leutenegger Anne-Louise AL Labalme Audrey A Genin Emmanuelle E Toutain Annick A Steichen Elisabeth E Clerget-Darpoux Francoise F Edery Patrick P
American journal of human genetics 20060428 1
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. ...[more]
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