Abstracts

Biological sciences

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.

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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.

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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).

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