Fig. 5 | Nature Communications

Fig. 5

From: A comprehensive overview of genomic imprinting in breast and its deregulation in cancer

Fig. 5

Graphical representation of rationale of the PMF. a The PMF is defined as a mixture model of genotype-dependent binomial distributions and describes the probability of observing specific RNA-seq coverages for each allele for a specific SNP locus. In these binomial probabilities, sequencing error rates, degree of imprinting (i) as well as the specific genotype are taken into account. For non-imprinted loci, the PMF results in two homozygous peaks and one heterozygous peak. For imprinting, on the other hand, no heterozygous can be detected on RNA-level and this peak is hence eliminated. Heterogeneous data leads to the detection of partial imprinting. b PMF for different degrees of imprinting. In this mixture model, the genotype-dependent binomial distributions have weights corresponding to their Hardy–Weinberg theorem derived expected chances

Back to article page