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Such a broad-applicability instrument would enable comparison of the functionality scores of different impairments of pediatric hands with regard to unimpaired hand functioning.
The SPIDEXTM database36 was retrieved from the deepgenomics website (https://www.deepgenomics.com/spidex-noncommercial-download), and functionality scores (Z index) were extracted from all SNPs present in the database (i.e., located < 300 nucleotides apart of a known splice site).
16 Computational methods in musicology: using music21 for music theory II Roman numeral analysis of Bach chorales: Algorithms for detecting key changes in Bach chorales (windowed analysis using probe-tones; single-pass average functionality scores; multiple pass sectional combining).
We could not genotype any of the five SNPs with functionality scores below 0.5, and only 13 of the 27 SNPs with functionality scores between 0.5 and 0.6 (Figure 4).
Overall 155, 81 and 28 SNPs were discarded because of low functionality scores, neighboring polymorphisms, or because they corresponded to rare variants, respectively.
A total of 184 in vitro SNPs were chosen on the basis of functionality scores, presence of neighboring polymorphisms, MAF and linkage disequilibrium.
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The p.G613A, however, present in the N-terminal helical bundle of VPS9, is not conserved even in mouse RIN3, and is likely to be a neutral substitution consistent with data from automated functional prediction tools (Functionality score = 1; Table 1).
The functionality score ranges from 0 (low functional probability) to 6 (high functional probability).
IIS were classified as 'low', 'medium', or 'high' in terms of IIS functionality score if the percentage of IIS functional standards achieved was < 37.1%, >37.1% and < 69.9%, or > 69.9%.
The p.Y793H variant that was suggested to be a 'potentially damaging' substitution with high probability on the other hand (Functionality score = 6; Table 1) is largely buried within the structurally and functionally important αV4 helix (23) in the VPS9 domain.
However, the functionality score according to Knaus' classification was known for 95% of survivors, with 61% of them suffering no loss of autonomy.
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