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Consider a population consisting at a certain locus of three genotypes: A1A1, A1A2, and A2A2.
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Targeted sequencing involves the enrichment of a certain locus or group of loci in a varying number of samples.
Another mechanism for the mitotic propagation of epigenetic marks is the relation between the timing of replication of a certain locus during S-phase and gene activity (Gondor and Ohlsson, 2009).
The authors [ 4] suggest estimating the nonparametric functions of the genotypes of a certain locus by applying additive model theory [ 5].
From FST calculations, posterior probabilities of two models are estimated: one model including selection on a certain locus (the locus-specific component of FST, α, is different from zero), the other one not.
In brief, since the MLPA dosage quotient ratios of the individuals at a certain locus are distributed according to a mixture of normal distributions, it is possible to assign to each individual a posterior probability of being located within one of the normal distributions that represent each copy number state.
Hence, CpG methylation is a more indicative tool to predict the functionality of a certain locus over forthcoming mitotic generations (Peters and Schubeler, 2005; Feng et al., 2006).
Indeed, while presenting their results on cryptic variation, Seplyarskiy et al. [ 168] noted that while a substitution in a certain locus in gorilla increases the chance of an SNP in the corresponding locus in humans by about 30%, the substitutions that have occurred on the path connecting two species of lemurs show practically no correlation with the locations of SNPs in humans.
Indeed, peak summits indicate an overrepresentation of a motif in a certain locus.
Alpha a measure of the locus heterogeneity that indicates the proportion of families with alleles linked to disease at a certain locus.
First, by NGS one can interrogate almost every nucleotide amplified by the WGA method, whereas microarrays examine only certain loci of a single-cell WGA product defined by the physical positions of the probes.
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