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The mechanism behind the reported associations is not yet understood, although several lines of evidence implicate variation in gene expression [ 25, 26].
Both classical [ 13, 14] and recent [ 15- 17] and others reviewed in [ 18] works implicate variation in gene expression among members of a population, controlled by regulatory as opposed to coding sequence, as a principal source of such variation.
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Given the differences in which agent was implicated, variation in ranges of exposure studied, and modest effect sizes, the evidence linking PFOA or PFOS and birth weight remains ambiguous.
Examination of read depth in these areas suggested that coverage was relatively low compared to the mean for the whole exon, implicating variation in read depth as a potential source of discordant or false positive calls.
For example, it would have been desirable to have genotyped nsSNPs mapping to DNMT1 and DNMT3b, given previously published data implicating variation in these genes in development and prognosis of lung cancer (Kassis et al, 2006; Kim et al, 2006; Wang et al, 2006).
First and foremost, a substantial body of genetic evidence implicates variations in and around the Ide gene with the incidence and onset of AD [15] [18], thus strongly supporting a key role for this protease in disease-relevant functions.
Epidemiological studies implicate variation among fucose-containing glycoconjugates in human susceptibility to cholera (Barua and Paguio, 1977; Swerdlow et al., 1994; Harris et al., 2005; Holmner et al., 2010).
Approximately 6000 genes were ranked on their Golub-scores – a high score for a gene implicating minor variation in expression within the subtype but large variation between the subtypes, in turn implicating high discriminating power.
Our analysis of two large independent GWAS of LOAD strongly implicates genetic variation in the functions of the immune system and in lipid metabolism as causes of LOAD susceptibility.
We then show that correlating metabolic profiles to clinically relevant surrogate endpoints can identify metabolites implicated in variation in drug response.
Interestingly, Murphy et al. [ 39] have implicated genetic variation in HTR2A in side effects to the SSRI paroxetine.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com