AutDB genes are ranked based on the cumulative strength of evidence for individual variants in that gene as described by Larsen et al., 2016. Briefly, each ASD-associated genetic variants is manually annotated with multiple attributes extracted from the original report, followed by score assignment using a set of standardized parameters. The assessment of evidence is based on the following considerations:
Mode of inheritance (de novo or transmitted).
Variant frequency in the general population.
Type of variant (missense, nonsense, etc.).
Functional effect of the variant.
Significance of genetic association.
Family structure (simplex, multiplex, multigenerational or consanguineous).
Zygosity (heterozygous, homozygous or hemizygous.
A consolidated gene score by summing the various evidence scores generated for each individual variant of an ASD-implicated gene. AutDB genes are ranked based on the distribution patterns of the evidence scores.
Ln(TGS) of two or more standard deviations above the mean.
Ln(TGS) of one to two standard deviations above the mean.
A scored Ln(TGS) that is above 0 but below one standard deviation above the mean.