Table 1.
Summary of data sets used in this study: Homozygosity Mapping Collaborative of Autism (HMCA), Autism Genetic Resource Exchange (AGRE), Simons Simplex Collection (SSC) and HapMap (control samples).
| HMCA collection | AGRE | Simons Simplex | HapMap | Total | |
|---|---|---|---|---|---|
| # of families | 187 | 740 | 1,027 | 801 | 2,755 |
| # of samples | 790 | 2,985 | 3,881 | 1,251 | 8,907 |
| affected individuals (offspring) [Unaffected siblings] | 255 [169] | 1,463 [94] | 1,027 [798] | 0 [856] | 2,745 [1,917] |
| affected parents | 13 | 4 | 0 | ||
| % of families with both parents | 84% | 85% | 100% | 20.10% | |
| % of consanguineous families | 66% | 0.40% | 0% | 1.50% | |
| % of multiplex families | 22% | 87% | 0% | 0% | |
| male/female ratio (affected) [Unaffected siblings] | 3.63 [0.76] | 3.69 [0.71] | 6.55 [0.83] | n/a [1.03] | |
| SNP array technology | Affy 6.0 & 500 K | Affy 5.0 | Illumina 1 M | Affy 6.0 & 500 K |
For each dataset, the table presents the fraction of families with: both parents, consanguinity, and 2 or more affected children (multiplex families). In the bottom of the table we show the male/female ratio for both affected individuals (offspring) and unaffected siblings. Additional information can be found in Methods (Description of datasets).