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Then we used simple linear regression using least squares to quantify the exact relationship between FSD values in the corresponding models.
The distribution of FSD values reveals outliers for all models, in those with and those without pathogenic structural variants (Fig. 2A).
The validity of FSD as a predictor of an underlying pathogenic structural variant was tested in the second cohort as follows: first, we demonstrated a linear relationship with strong positive correlation between FSD values in corresponding models of the same region of the face but with different composition of subjects (Face1 to Face2, Eyes1 to Eyes2 and Nose1 to Nose2).
An FSD value is not an absolute measurement: a given FSD value is always ≥0, and it can only be compared with FSD values for other faces in the same model, because it is dependent on the underlying model whose principal components in turn reflect the faces analysed.
Indeed, some of the study participants with high FSD values were not thought to be dysmorphic when evaluated by their regular physician.
For our training cohort, FSD values in the original and second (including the 63 patients) set of models showed strong positive correlation (Face1 versus Face2: ρ = 0.96; P < 0.001, Eyes1 versus Eyes2: ρ = 0.96; P < 0.001, Nose1 versus Nose2: ρ = 0.93; P < 0.001; n = 118 for all), and a linear relationship was demonstrated (Fig. 2C).
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To achieve this, the Fs values of 675 homogenous finite slopes having different soil and slope parameters were calculated by using the simplified Bishop method and the minimum (critical) Fs value for each slope was determined and used in the ANN and MR models.
Furthermore, the existence of the water table results in lower FS values than the cases without considering a water table because the groundwater reduces the shear strength of the improved foundation.
Fu's Fs values were not significant except for BB (Table S4).
Similarly, no Fu's Fs values were significant (Table 1).
None of the Tajima's D or Fu's Fs values are significant except for the negative Fs value of the mid-Holocene samples (in bold), which remains significant even after Bonferroni correction, indicating population expansion.
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