Table 1.
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.
See manuscript for references for each cohort