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A duplication between 475 and 1729 bp within the GDF9 gene was identified by array-CGH in Patient 20.
Our interpretation features a duplication between PLG 1 and PLG 4 and an inversion within PLG 10; it is therefore fully in line with earlier inferences.
For example, a duplication between the α2 and α1 genes in human is reapplied, as the dotted circles and arc in figure 4 A and B show.
However, the duplication tree resulting from rooting the A domain phylogeny at b implies a partially ordered duplication history which also infers a duplication between modules 1 and 3 and between modules 2 and 4, consistent with duplications predicted for C domains (Figs. 6Ai, ii).
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A duplication block between chromosomes 11 and 12 has been extensively characterized in rice and other cereals, although the age of its birth is still controversial [ 9, 14, 15, 18, 19].
Then one would insert an edge representing a genome duplication between (4, 3) and (8, 6).
Butler et al. reported a PWS case with a typical class II deletion who also had a small duplication between BP1 and BP2, and the duplication was present in the healthy father and his brother [ 92].
Possibly, there could be a difference between japonica and indica varieties, as previous comparisons identified a second duplication between chromosomes 11 and 12 in the indica [ 5] but not the japonica [ 33] species.
The activation of RAF has been shown to occur either through an activating point mutation (BRAF V600E), or much more frequently, through genomic alteration on 7q34 which creates a tandem duplication between the KIAA1549 gene and the BRAF gene kinase domain [10,11].
Interestingly, also the moss P. patens underwent a genome duplication between 30 and 60 million years ago [ 57, 66].
It was possible to estimate exponential growth rates in three group A patients using parametric models, which showed values of between 0.060 and 0.191 months−1, corresponding to a duplication time of between 11.5 and 3.6 months.
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