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Using an expanded pedigree of these dogs, Seppälä and colleagues identified 11 pairs of discordant siblings (one affected, one not).
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Diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) is currently based on phenotypical analysis of an expanded pedigree.
A two-stage genome scan to identify the genomic locations of glaucoma susceptibility genes was performed using an initial pedigree set of 113 affected sibpairs and a second pedigree set of 69 affected sibpairs.
Our results show that using a deep pedigree with many gaps is still preferable over a short but complete pedigree.
A lethal mutation was identified in the expanding pedigree of California condors that negatively affected limb development [ 11].
We also used a real pedigree to demonstrate the utility of our approach in identifying causal mutations.
Here, we will describe the MADCE procedure as adapted for pedigreed cultivars and illustrate this procedure for microsatellite CX661101 (Table 4) using a set of 21 pedigreed cultivars.
To facilitate analysis, the original pedigree (N = 6,537) was split (N = 1,078) using a peeling algorithm in the pedigree database management system, PEDSYS Southwest Foundation for Biomedical Researchh, San Antonio, TX, USA) [25].
Following pedigree relationship clustering, the corrected pedigree data (genomic pedigree) was checked for Mendelian inheritance errors using a script written by one of the authors in R and SNPs or animals showing consistent errors were removed from further analysis.
In the case of data from pedigrees, alignments are evaluated simultaneously across pedigree members at every position using a scoring method that assumes Mendelian variant segregation.
Using a genomic relationship matrix increased the accuracy of breeding values relative to using a pedigree relationship matrix.
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