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Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls
[article]
2015
bioRxiv
pre-print
Next-generation sequencing of DNA provides an unprecedented opportunity to discover rare genetic variants associated with complex diseases and traits. However, when testing the association between rare variants and traits of interest, the current practice of first calling underlying genotypes and then treating the called values as known is prone to false positive findings, especially when genotyping errors are systematically different between cases and controls. This happens whenever cases and
doi:10.1101/032037
fatcat:uphxtiklyzg4dbg6lbrjcgoiy4