Customized biomedical informatics

Abstract

Genome 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. Structural 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. It 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. mtDNA 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.