Article
Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant.
Genetic testing and molecular biomarkers - 1 Dec 2011
Alharbi Khalid K, Hou Guangwei, Chen Xiao-he, Gaunt Tom R, Syddall Holly E, Sayer Avan Aihie, Dennison Elaine M, Phillips David I W, Cooper Cyrus, Day Ian N M
Abstract excerpt
Current studies of human genetic diversity are focused in two areas: first, detection of rare mutations in highly selected clinical cases; and second, in common single-nucleotide polymorphism (SNP) and haplotype effects in the general population. Less frequent SNPs and "paucimorphisms" remain underexplored, although lower frequency coding SNPs are more likely to have functional impact. We have developed a...
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