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.
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.
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.
To help explore the potential biological implications of these genetic variants, software tools have been previously developed for integrating various types of information about these genomic regions from multiple data sources.
With a vast amount of genetic variants detected by such techniques as traditional genome-wide association studies [ 1, 2] and recent exome sequencing studies [ 3, 4], connecting functional implications of these genetic variants to human inherited diseases has now become a standard task [ 5].
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].
Report our experience in prenatal diagnosis of 11 cases of interrupted inferior vena cava, summarize the clinical significance and implications of this variant.
Researchers investigating the potential functional implications of genetic variants have often tended to ignore splicing effects [5], although, recently, there have been several large-scale studies to identify common genetic variants with an effect on mRNA splicing [4], [8], [9], [10], [11], [12], [13], [14], [15].
One of the key tasks of the post-genome era is to determine the functional implications of genomic variants.
