2011/07/04 by Peter Rogan, Rogan, Peter, Eliseos Mucaki +1
Biochemistry, Genetics and Molecular Biology · #FOS: Biological sciences #Genomics (q-bio.GN) #Populations and Evolution (q-bio.PE) #q-bio.GN #q-bio.PE
paper · pdf · doi:10.48550/arxiv.1107.0716
6 pages, 7 figures; ISMB
arxiv created 2011/07/04 · arxiv updated 2011/07/05
Deleterious genetic variants can be evaluated as quantitative traits using information theory-based sequence analysis of recognition sites. To assess the effect of such variants, fitness and genetic load of SNPs which alter binding site affinity are derived from changes in individual information and allele frequencies. Human SNPs that alter mRNA splicing are partitioned according to their genetic load. SNPs with high genetic loads (>0.5) are common in the genome and, in many instances, predicted effects are supported by gene expression studies.