What is New
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I. Data collection
- This version we add the papers from July 25,2011 to June 30, 2018. The collected log of AutismKB 2.0 is in the Figure 1.
- The current version contains 1,329 genes(total score > 16), 5,420 Copy Number Variations (CNVs), 11,669 single-nucleotide variations and indels(SNVs/Indels) (5,669 de novo mutations and 789 mosaic mutations), and 172 linkage regions associated with ASD. The new statistic of data is in Figure 2.
Figure 1:Collected log of AutismKB 2.0
Figure 2: Statistic of AutismKB 2.0
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II. The improvements made by the new version on the old version have the following aspects:
- We re-rank our genes using the previous ranking algorithm. We use the same benchmark dataset and get a new final weight matrix.
- Finally, we benchmarked the scoring matrix of nine categories of evidences/studies by ranking the 75% quantiles of the benchmark dataset to the highest rank (Table 1).
- 228 genes with a total score greater than 16 were listed as core genes.
| Categories | GWAS | CNV | Linkage | Low-Scale Association | Expression | NGS De Novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies |
|---|---|---|---|---|---|---|---|---|---|
| Weight | 4 | 2 | 2 | 2 | 1 | 10 | 1 | 8 | 10 |
Table 1: Final Weight Matrix
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III. The literatures with many contributions are as follows
- Dou et al. estimated that pSNMs in probands or de novo mutations inherited from parental pSNMs increased the risk of ASD by approximately 6%. See the literature for details: 28503910