Table 1.
Information on cases and controls1
| Site | Indications for Study |
N | Platform |
|---|---|---|---|
| Cases | |||
| SickKids | NDD, MCA only | 3,258 | Agilent 44K/180K |
| Children's Hospital |
All | 7,320 | Agilent 244K |
| Signature | NDD only | 14,616 | Signature ChipOS 105K/135K |
| Mayo | All | 13,135 | Agilent 180K |
| Harvard | Balanced chromosomal rearrangement with phenotype |
221 | Next Generation sequencing |
| Controls | |||
| ISC | Unaffected | 7,878 | Affymetrix 5.0/6.0 |
| Cooper et al.* | Unaffected | 6,113 | Affymetrix 6.0 |
| OHI | Unaffected | 1,234 | Affymetrix 6.0 |
| POPGEN | Unaffected | 1,123 | Affymetrix 6.0 |
| HapMap3 | Unaffected | 1,056 | Affymetrix 6.0 |
| SAGE | Unaffected | 1,287 | Illumina 1M |
| Shaikh et al. | Unaffected | 2,026 | Affymetrix 6.0 |
| DGV** | Unaffected | 7,988 | Multiple |
NDD = any neurodevelopmental disorder, behavioral, or neuropsychiatric disorder, including autism and autism spectrum disorder.
MCA = multiple congenital anomalies.
All = all indications for study included; precise phenotypes of all individuals were not available for further delineation of NDD.
*
Publicly available control data from Cooper et al. (2011) with WTCCC controls already analyzed in the ISC control set removed.
**
Controls from DGV filtered for overlap with other control studies presented.
1
See manuscript for references for each cohort