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On the Analysis of Optical Mapping Data - University of Wisconsin ...

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32<br />

µ<br />

(52.1,448]<br />

(37.3,52.1]<br />

(29.9,37.3]<br />

(24.9,29.9]<br />

(21.2,24.9]<br />

(18.2,21.2]<br />

(15.6,18.2]<br />

(13.6,15.6]<br />

(11.7,13.6]<br />

(10,11.7]<br />

(X − µ) µ<br />

(X − µ) µ<br />

(X − µ) τ 2 µ 2 + σ 2 µ(τ 2 + 1)<br />

−4 −2 0 2<br />

−0.6 −0.4 −0.2 0.0 0.2 0.4<br />

−6 −4 −2 0 2 4 6<br />

Figure 2.4 Variance models for observed fragments sizes. The dependence <strong>of</strong> <strong>the</strong> variance<br />

on <strong>the</strong> true fragment length µ is difficult to study because <strong>the</strong> true fragment lengths are unknown.<br />

However, given a reasonable alignment scheme, <strong>the</strong> true lengths are known if highly<br />

significant alignments are assumed to be true. Here, we use significant alignments <strong>of</strong> <strong>the</strong><br />

GM07535 data, leaving out all fragments less than 10 Kb since smaller fragments may have<br />

a different variance model. To remove possible effects <strong>of</strong> within-map dependence, only one<br />

fragment is randomly selected from each map. The plots are box and whisker plots <strong>of</strong> lengths<br />

standardized according to different variance models, compared across different ranges <strong>of</strong> µ.<br />

Clearly, <strong>the</strong> first two variance models do not completely capture <strong>the</strong> systematic dependence<br />

on µ, but <strong>the</strong> last one does. The large proportion <strong>of</strong> ‘outliers’ suggests non-normality, which<br />

is explored fur<strong>the</strong>r in Figure 2.5.<br />

−4 −2 0 2 4<br />

Normal<br />

t with 5 d.f.<br />

X − µ<br />

τ 2 µ 2 + σ 2 µ(τ 2 + 1)<br />

2<br />

0<br />

−2<br />

−4 −2 0 2 4<br />

Theoretical Quantiles<br />

Figure 2.5 Distribution <strong>of</strong> standardized fragment length errors. The data used in Figure<br />

2.4 are used again in Q-Q plots to illustrate that <strong>the</strong> observed lengths are non-normal.<br />

Empirically, <strong>the</strong> t distribution seems to be a better fit.

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