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Graphical representation of allelic heterogeneity at a locus with common and low frequency/rare variant associations with a complex trait. Turquoise bars represent trait-related variants carried by different individuals at a locus of interest. Bar width represents variant frequency (wider bars denote variants with higher frequency). Single-point association analysis of the low frequency/rare variants has extremely low power, but composite analysis by considering all variants of interest locus-wide is a more powerful alternative.
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建议读或观看以下内容 1 深入了解snp-calling流程 2 Cloud Computing for Next-Generation Sequencing Data Analysis 3 https://en.wikipedia.org/wiki/SNV_calling_from_NGS_data 4Small-Variant Calling and Annotation 5 Hands-on Tutorial on SNP Calling 6 Finding SNPs Using Sequencing Data
