TITLE:
Single Nucleotide Polymorphisms: A Window into the Informatics of the Living Genome
AUTHORS:
Georgia M. Dunston, Tshela E. Mason, William Hercules, James Lindesay
KEYWORDS:
SNPs, Genomic Information, Genodynamics, Biophysical Metrics, Allelic Energies
JOURNAL NAME:
Advances in Bioscience and Biotechnology,
Vol.5 No.7,
June
20,
2014
ABSTRACT: Nested in the environment of the nucleus of the cell,
the 23 sets of chromosomes that comprise the human genome function as one
integrated whole system, orchestrating the expression of thousands of genes
underlying the biological
characteristics of the cell, individual and the species. The extraction of
meaningful information from this complex data set depends crucially upon the
lens through which the data are examined. We present a biophysical perspective
on genomic information encoded in single nucleotide polymorphisms (SNPs), and
introduce metrics for modeling information encoded in the genome.
Information, like energy, is considered to be a conserved physical property
of the universe. The information structured in SNPs describes the adaptation of
a human population to a given environment. The maintained order
measured by the information content is
associated with entropies, energies,
and other state variables for a dynamic system in homeostasis. “Genodynamics”
characterizes the state variables for genomic populations that are stable under
stochastic environmental stresses. The determination of allelic energies allows
the parameterization of specific environmental influences upon individual
alleles across populations. The environment drives population-based genome
variation. From this vantage point, the genome is modeled as a complex, dynamic
information system defined by patterns
of SNP alleles and SNP haplotypes.