Article
Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry.
Clinical chemistry - 1 Aug 2011
Trewick Anne L, Moustafa Julia S El-Sayed, de Smith Adam J, Froguel Philippe, Greve Gottfried, Njølstad Pål R, Coin Lachlan J M, Blakemore Alexandra I F
Abstract excerpt
BACKGROUND: The accurate assignment of alleles embedded within trisomic or duplicated regions is an essential prerequisite for assessing the combined effects of single-nucleotide polymorphisms (SNPs) and genomic copy number. Such an integrated analysis is challenging because heterozygotes for such a SNP may be one of 2 genotypes-AAB or ABB. Established methods for SNP genotyping, however, can have difficulty...
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