Then, if K is the random variable representing the number of samples the variant is found in and if N is the minimum number of observations necessary to declare the variant as being "discovered", the discovery event is defined as K ≥ N and its probability is (3) Theorem 2 (Genotype Variants).
Regarding the specific example cited, the 14 intronic reads in the sample containing the variant in the read-abundance category) are contrasted with the per sample mean of 4.051 reads across all non-variant-containing tumours and normal samples in this intron (i.e. the totality of control samples, which results in a p-value of 0.04.
In the complete sample, the COMT variant rs4680 was the only variant that associated with bipolar spectrum disorder in the complete sample (Table 2).
In studies of schizophrenia, 1% frequency (percentage of a sample with the variant) has often been used as a cutoff for rare [41].
To test the genetic homogeneity between the Chtimi sample and the variant carriers, Principal Component Analysis (PCA) was performed using SmartPCA on the genotypes of 4 patients and 32 controls.
Clearly, even where significant associations are replicated across several samples, the variants that have been found have only a small contributory effect to the etiology of dyslexia.
In UK samples, the variants in PPARG, KCNJ11 and TCF7L2 are jointly capable of generating a discriminative value of approximately 58% [ 29].
The association of rs10811661-T to T2D replicates in our samples, but the variant does not associate with any of the five arterial diseases examined.
Reads sampled from the variant subpopulation that span these breakpoints will again map to either of the reference breakpoints, depending on their location.
the program calculates additional features such as the number of bases to the closest variant, mean and standard deviation of the entropy of the genotype distribution across all samples of the variant, entropy of the reference sequence near the variant.
