Update to Blangero et al.'s 'Quantitative Trait Nucleotide Analysis Using Bayesian Model Selection' (2005): From QTL Localization to Functional Variant Identification

摘要

[...] with the tremendous growth of sequencing potential, we anticipate that this method will be of great value when we begin to completely sequence individual human genomes in search of QTLs in the near future. Besides laying out the general theory of BQTN analysis and providing a simulation-based example, we used the 2005 paper as an opportunity to describe our software implementing the technique in our SOLAR genetics analysis package. The growing recognition that genome-wide association analysis has failed to account for the observed heritabilities of all heretofore examined traits strongly suggests that most functional variation underlying human quantitative trait variation is likely to be rare. [...] only comprehensive deep sequencing approaches are likely to capture such functional variants.