GPF-SFARI. (A) We organized the data in the GPF instance deployed at SFARI (GPF-SFARI) into three large data sets. Two data sets, SSC (Fischbach and Lord 2010) and SPARK (Feliciano et al. 2019; Zhou et al. 2022), are protected under a rigorous authorization process and comprise the de novo and transmitted genotypes and phenotypes from the two large collections of families with autism built by SFARI. The third data set, sequencing de novo, is a collection of publicly available de novo variants identified in individuals diagnosed with one of six disorders (autism, schizophrenia, developmental disorder, intellectual disability, congenital heart disease, and epilepsy) and in typically developing children labeled as unaffected. In addition, GPF-SFARI includes a publicly accessible gene profiles component (see Table 1), displaying autism-relevant information for each human gene, including variant counts across three data sets. (B) The panel shows the number of individuals (top) and the number of de novo coding variants (bottom) included in the sequencing de novo data set separately for each diagnosis. The bottom section displays the counts for three types of de novo coding variants: de novo likely-gene-disrupting (LGD) variants (blue), de novo missense variants (orange), and de novo synonymous variants (green). (C) The panel shows the numbers of families (left), individuals (middle), and de novo coding variants (right) in the SSC (top) and SPARK (bottom) data sets. The number of families is organized by type: simplex (one individual with autism) and multiplex (more than one individual with autism). Individuals are categorized by diagnosis: dark blue for affected (autism) and light blue for unaffected. We present the numbers of individuals with phenotypic data (individuals) and those with genotypes derived from whole-exome sequencing (WES), whole-genome sequencing (WGS), or both (WES & WGS). Finally, the numbers of de novo coding variants are presented separately by the variant effects: LGD, missense, or synonymous.
