Table 1 The total number of ASD/ID-affected probands (cases) and unaffected siblings (controls) used in this study
Class-ASD diagnosis (affected or unaffected)StudyNumber of samplesNumber of LGD variantsReferences
Affected ASD/ID probandsSimons simplex collection (SSC)2508492O’Roak et al. (2012, 2014), Iossifov et al. (2014), Krumm et al. (2015), Turner et al. (2016)
Autism sequencing consortium (ASC)2270185De Rubeis et al. (2014)
Other studies132974Michaelson et al. (2012), Rauch et al. (2012), Hashimoto et al. (2016)
Total (case)6107751
Unaffected siblings or controlsSimons simplex collection (SSC)1909248Iossifov et al. (2014), Krumm et al. (2015)
GoNL2507Francioli et al. (2014)
Other studies20811Gulsuner et al. (2013)
Total (control)2367266