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This difference may be due to variant methodologies of extraction and analysis or the time of the year when the sampling was done.
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Ladouceur et al. provide one of the most comprehensive evaluations of rare variant methodology to date [ 31].
Collapsing variant methodology ranked OBSCN, a gene involved in myofibrillogenesis, as most enriched in Caucasian (P = 1.07×10−4) and non- RNF213 founder mutation cases (P = 5.31×10−5).
Most rare variant statistical methodologies have been developed for quantitative traits (identity link function) or dichotomous phenotypes (logistic link function).
The double-stimulus impairment scale (DSIS) Variant I methodology [35] was used for the evaluation.
The power of rare variant association methodology is also likely to vary according to the technology used to assay genetic variation.
These results are entirely consistent with other published simulation studies investigating the performance of rare variant association methodology using imputation up to re-sequencing data, either from an external reference panel [ Li et al., 2010, or from a subset of the analysis cohort [ Zawistowski et al., 2010.
The use of next generation sequencing technologies to screen CRC cases for causal variants will require enunciation of variants through bioinformatic methodologies.
For the classification of tumor samples and normal tissue we applied a variant of a standard methodology.
k-means partitioning is implemented using a novel and much faster variant of the standard methodology.
Data extracted were: methodology; the variant(s) and gene(s) assessed; outcome measures and population.
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