2011/08/15 by James Lindesay, Tshela E. Mason, Lindesay, James +12
Biochemistry, Genetics and Molecular Biology · Physics and Astronomy · #Biological Physics (physics.bio-ph) #FOS: Biological sciences #FOS: Physical sciences #Genomics (q-bio.GN) #Genomics and Phylogenetic Studies #RNA and protein synthesis mechanisms #RNA modifications and cancer #physics.bio-ph #q-bio.GN
paper · pdf · doi:10.48550/arxiv.1108.3012
13 pages
arxiv created 2011/08/15 · openalex publication_date 2011/08/15 · arxiv updated 2011/08/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
Various studies have shown an association between single nucleotide polymorphisms (SNPs) and common disease. We hypothesize that information encoded in the structure of SNP haploblock variation illumines molecular pathways and cellular mechanisms involved in the regulation of host adaptation to the environment. We developed and utilized the normalized information content (NIC), a novel metric based on SNP haploblock variation. We found that all SNP haploblocks with statistically low information content contained putative transcription factor binding sites and microRNA motifs. We were able to translate a biophysical, mathematical measure of common variants into a deeper understanding of the life sciences through analysis of biochemical patterns associated with SNP haploblock variation. We submit that this new metric, NIC, may be useful in decoding the functional significance of common variation in the human genome and in analyzing the regulation of molecular pathways involved in host adaptation to environmental pathogens.