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.
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
