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Predictions of the possible functional implications of the variants were made using PolyPhen (http://genetics.bwh.harvard.edu/pph/) and SIFT (http://blocks.fhcrc.org/sift/SIFT.html) programs [29], [30].
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As these kinds of proteins can regulate viral attachment and immune evasion of viruses, evidence of selection in BLLF1, BKRF2, MTP, BRRF2, and BFRF2 suggests that knowledge may be gained from a detailed analysis of genetic variation in these genes in different populations and pathology groups and from the study of functional implications of these variants in the biology and pathogenesis of EBV.
In conclusion, when the next round of ENIGMA studies has been completed, there will be a scaffolding of credible genetic variants on which to build and test new models of macroscale brain development, the implications of those variants for neuropsychiatric disease, and a new basis to probe the genetic architecture of the living human brain.
As the functional implications of these variants can not be predicted in the non-coding regions of the genome by current prediction tools and miRNAs often have RNA editing events [ 25– 27], further investigation is needed for their biological implications.
To assess the structural implications of these variants, we modeled their secondary structures based on consensus secondary structures of the mammalian mitochondrial tRNAs [8]. Figure 2 shows our secondary structure models for all the five tRNA genes.
Additional resequencing of the genomic region of interest may be needed to identify the 'causal' variant followed by subsequent functional annotation studies to ascertain the clinical implications of these variants on arrhythmias and SCD.
Overall the majority of survey respondents felt uncertain about their ability to understand the implications of the reported variants based on the genetics reports they were presented with.
Continued surveillance for NoV infections through ISGEV and additional data on clinical and epidemiologic features will enable further assessment of the public health implications of the new variant GII.4 Sydney 2012 in Italy.
Report our experience in prenatal diagnosis of 11 cases of interrupted inferior vena cava, summarize the clinical significance and implications of this variant.
One of the key tasks of the post-genome era is to determine the functional implications of genomic variants.
In this way, Epi4K will be able to leverage its established clinical resources not only for discovering susceptibility variants, but also for exploration of the prognostic implications of susceptibility variants.
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