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The frequency and clustering of nsSNPs.

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posted on 2011-04-29, 02:17 authored by René A. W. Frank, Allan F. McRae, Andrew J. Pocklington, Louie N. van de Lagemaat, Pau Navarro, Mike D. R. Croning, Noboru H. Komiyama, Sophie J. Bradley, R. A. John Challiss, J. Douglas Armstrong, Robert D. Finn, Mary P. Malloy, Alan W. MacLean, Sarah E. Harris, John M. Starr, Sanjeev S. Bhaskar, Eleanor K. Howard, Sarah E. Hunt, Alison J. Coffey, Venkatesh Ranganath, Panos Deloukas, Jane Rogers, Walter J. Muir, Ian J. Deary, Douglas H. Blackwood, Peter M. Visscher, Seth G. N. Grant

A) 3-dimensional Venn diagram showing the relative frequency (height) of 62 different non-synonymous single nucleotide polymorphisms (nsSNPs; represented as blocks) from exon re-sequencing of schizophrenic, bipolar and controls. All data points are in view and range from less than 0.1% to 45% minor allele frequency. NsSNPs found only in one of the cohorts exhibit very low frequency compared to the common variants found in all (see supplementary datasheet S2, columns I, K and M). B) Table showing the exon re-sequenced genes ranked by the significance of nsSNP density of their disease only nsSNP clusters. Disease only nsSNPs are variants that are found at least once in one of the disease cohorts and were excluded from the control cohort. DLG2 is represented by two splice variants, in which nsSNPs were found. nsSNP density is defined as the number of nsSNP per 100 codons (or residues). nsSNP clusters were identified computationally and P-values were calculated by randomization (see Supporting Information S1).

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