Only 1 SNP (less than 1.5% of the variants detected in each individual, and around 6% of the variants shared by the same family) per family on average passed this filtering process, showing that, even after using restrictive thresholds, additional information has to be used to select the most probable variants (Table 5).
Perhaps the most probable functional variant within NFKBIL2 is the coding change rs2306384, but it is noteworthy that this association did not replicate in the Kenyan study group.
The most probable causal variant for association of the IRF5 locus with MS is a functional 5-bp biallelic insertion deletion polymorphism that differentially binds the SP1 transcription factor to the IRF5 promoter (Kristjansdottir et al. 2008).
Fine mapping of the region for type 1 diabetes (T1D) by resequencing of exons and flanking regions and SNP genotyping for the surrounding genes revealed that the most probable causal variant would be localized at the 3′ end of the KIAA0350/CLEC16A gene.
In designing a fine mapping of the IRF5 locus based on mTDT, mTDT Y, mTDT YP, mTDT L 1 or mTDT L 2 results, we would be erroneously focusing on the middle of the gene instead of on the promoter, where the most probable causative variants are located.
In silico methods allow for analysis of other SNPs to determine the most probable candidate rare variants, depending on their location in the genome and inside the genes, and are investigated in detail to further confirm their pathogenicity.
After discovering the possibly damaged variants found in SIFT and Polyphen2, the consensus of both datasets was further analyzed in order to find the most probable impact of these deleterious variants in terms of drug targeting, transport, and metabolism.
We report the probability of the most probable path for each of the equally probable gene segment sets.
There are exact instances of the most probable texts of length 4,5 and slight variants of most probable text of length 6 in the M77 corpus.
Instead, we build a framework for finding the most probable assignment of sequenced clones to potential structural variants based on the other clones.
