Therefore follow up includes targeted sequencing of

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Unformatted text preview: ined, it is unlikely that the causal variant(s) will be among those for which genotype data are available. StaBsBcal packages for “impuBng” addiBonal SNPs exist to infer missing or untyped genotypes based on known informaBon derived from flanking markers. However, the results are limited since databases comprise a minority of all SNPs. RepresentaBon of rare variants, in parBcular, is poor. Therefore, follow up includes targeted sequencing of the genomes to idenBfy putaBve disease ­causing sequence variants. In example shown, black are SNPs screened, grey imputed SNPs, and the genes that would need to be sequenced are shown. A further complicaBon is that many disease ­ relevant SNPs might be in regulatory regions, or in regulatory RNAs (e.g. linc RNAs). GWAS Resource hTp:// NHGRI GWA Catalog
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This document was uploaded on 04/09/2014.

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