Article

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

2015-11-16

Abstract excerpt

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 sys...

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Literature Corpus work: 9ee46fb2-42c1-5797-823d-0384e0125d5f
DOI: 10.1101/032037

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