Abstract
BackgroundGenome Wide Analytics Studies with regard to structural variations is a key component in phenome association. Here we analyze a family trio of father, mother and children for scientific discovery purpose.MethodsStructural variations, SVs, with size 1 base-pair to several 1000s of base-pairs with their precise breakpoints and single-nucleotide polymorphisms, SNPs, were determined for members of a family of four. The method involved optimal genome assembly and mapping to reference genome.ResultsIt is discovered that the mitochondrial DNA is less prone to SVs re-arrangements than SNPs and can possibly have paternal leakage of inheritance or high mutation in maternal inheritance. Sex determination of an individual is found to be strongly confirmed by means of calls of nucleotide bases of SVs to the Y chromosome.ConclusionmtDNA inheritance pattern proposes concerns for determining ancestry and divergence between races and species. These in silico techniques for analysis would become such a widespread application that a total transformation of the bio-and-medical industry would go through, as is currently with genome wide analytics and association studies. SVs would serve as fingerprint of an individual contributing to his traits and drug responses, more strongly than SNPs.
Highlights
Genome Wide Analytics Studies with regard to structural variations is a key component in phenome association
If we are interested in any other particular chromosome which has been known of having strongly been associated with a particular phenotype or characteristic trait, we can extract the structural variants (SVs) and single nucleotide polymorphisms (SNPs) for the particular chromosome and conduct a relational database analysis
It is interesting to see that the sum of the bases of insertions and deletions only (InDels) have increased in the children when compared to their parents while the levels of SNPs remain more or less the same
Summary
Genome Wide Analytics Studies with regard to structural variations is a key component in phenome association. At the same time these features can vary depending on external factors and the variation would be dependent on the feature itself and the external factor. These physical attributes are termed as ‘phenotypes’ and in biomedical relevant context it would be the ‘disease phenotypes’. It is not just the blueprint, or the corresponding genotype, that is the only responsible influencing agent for a certain phenotype to be expressed but many more external factors, consumption, exposure, ingestion, etc., have an impact for the onset of a phenotype. It becomes critical to obtain the DNA sequence and analyze them, for the
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