Evaluating methods for the analysis of rare variants in sequence data

  title={Evaluating methods for the analysis of rare variants in sequence data},
  author={Alexander Luedtke and Scott Powers and Ashley Petersen and Alexandra Sitarik and Airat Bekmetjev and Nathan L. Tintle},
  booktitle={BMC proceedings},
A number of rare variant statistical methods have been proposed for analysis of the impending wave of next-generation sequencing data. To date, there are few direct comparisons of these methods on real sequence data. Furthermore, there is a strong need for practical advice on the proper analytic strategies for rare variant analysis. We compare four recently proposed rare variant methods (combined multivariate and collapsing, weighted sum, proportion regression, and cumulative minor allele test… CONTINUE READING
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