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Single nucleotide polymorphisms and indel biallelic genotyping

机译:单核苷酸多态性和插入缺失双等位基因分型

摘要

Disclosed are methods and systems for array-based methods for genotyping biallelic markers. Also disclosed herein are methods for locus-specific multiplex PCR for selectively energizing amplification to reduce the effects of whole-genome amplification and unwanted pseudogenes in the resulting data. Is done. Genotyping methods typically assume one reference allele and one alternative allele for a marker or genomic variant. The multi-allelic genotyping algorithm disclosed herein extends from conventional genotyping methods to handle multi-allelic markers with more than one variant. [Selection] Figure 5
机译:公开了用于对等位基因标记进行基因分型的基于阵列的方法的方法和系统。本文还公开了用于基因座特异性多重PCR的方法,其用于选择性地激发扩增以减少全基因组扩增和所得数据中不需要的假基因的影响。已经完成了。基因分型方法通常假设一个参考等位基因和一个标记或基因组变异的替代等位基因。本文公开的多等位基因基因分型算法从常规基因分型方法扩展到处理具有一个以上变体的多等位基因标记。 [选择]图5

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