SVs have higher selection pressure to track inheritance by Y-Chromosome and mtDNA and associated paternal and maternal diseases respectively, while SNPs from them would be more individual specific
Abstract
Structuralvariations, SVs, with size 1 base-pair to 1000s of base-pairs with their precise breakpoints and single-nucleotide polymorphisms, SNPs, were determined for members of a family. The amount of SNPs found in mtDNA was... [ view full abstract ]
Structuralvariations, SVs, with size 1 base-pair to 1000s of base-pairs with their precise breakpoints and single-nucleotide polymorphisms, SNPs, were determined for members of a family. The amount of SNPs found in mtDNA was reasonably higher relatively speaking. It is also discovered that the mitochondrial DNA is less prone to SVs re-arrangements than SNPs which proposes better standards for determining ancestry and divergence between races and species, and accounts for maternally inherited diseases. Sex determination of an individual is found to be strongly confirmed by means of calls of nucleotide bases of SVs to the Y chromosome, which can also be a stronger criteria for Y-chromosome inheritance and associated paternal diseases. SVs would serve as a family line fingerprint of an individual for long term inheritance, compared to SNPs for short term inheritance contributing to his traits and drug responses.
Authors
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Abhishek Singh
(University of Leipzig and Schiller International University in Heidelberg)
Topic Area
Integrating Big Data (genome data, pharmacogenomics, therapeutic applications of genome ed
Session
PS3 » Poster Session (13:30 - Wednesday, 27th June, Main hall)
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