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As 81% of our TS alleles were mis-sense mutations, searching for mis-sense mutations in mutant genome exon sequences should lead to finding the causative mutations in most TS mutants.
We believe that this information could facilitate the process of finding the causative mutations or alterations in different cancer types.
A multidisciplinary team combined clinical phenotyping, exome sequencing, bioinformatics, and functional studies, eventually finding the causative mutation that influenced the future treatment of the child.
Whether finding the causative mutations or simply cataloguing the wealth of expressed genes is a priority, normalizing the RNA extract is beneficial [ 46, 47].
To evaluate the impact of random neutral variation on finding the causative gene, we generated a synthetic data set modeled on published cases of Miller syndrome [ 5], a rare recessive disease caused by mutations in DHODH.
Finding the causative gene may thus require tremendous work first, by fine mapping the genomic area of interest and then by performing functional studies [13, 14, 24].
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While separate stepwise linear regressions are effective in finding the most causative predictors for a specific type of PD need, this procedure is limited in that it does not account for relationships between the dependent variables and error covariance between items.
The finding of the causative SNP in such small samples was due to the intronic SNPs initially identified having high odds ratios - 7.4 in one case when homozygotes for a C base at the SNP were compared with other genotypes.
But high initial death rates often fall as officials find that the causative microbe also causes mild, even symptomless cases.
More specific treatment regimes are initiated and guided by findings regarding the causative microorganism and/or focus of infection.
However, in our study, LP findings identified the causative organism in three of the four patients with proven bacterial meningitis and excluded bacterial meningitis in a further 15 patients, allowing antibiotics to be discontinued and an earlier discharge from hospital.
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