Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome

Article Abstract:

The interest of the approach by mapping a gene for Taybi-Linder syndrome to chromosome 2q is shown with the use of a key patient with no genealogical information. This could be achieved by estimating inbreeding coefficients from the patients' genomic information and using these estimates to perform homozygosity mapping.

France, Dwarfism

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Article Abstract:

A genomewide linkage scan is performed using 10-cM-resolution microsatellite markers in order to identify new Meckel syndrome (MKS). The results have identified a fourth locus for MKS (MKS4) and the CEP290 gene, which are responsible for MKS.

United States, Central nervous system diseases, Linkage (Genetics)

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Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components

Article Abstract:

The article discusses about the use of Bayesian mapping for multiple complex traits. Result showed that this technique performs well for mapping multiple quantitative trait loci (QTL).

Bayesian statistical decision theory, Bayesian analysis

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