http://gpf.sfari.org/gpf19 instance
Dataset Description Access
Sequencing de Novo Published de novo variants identified through sequencing studies in unaffected children and children diagnosed with autism, epilepsy, intellectual disability, schizophrenia, developmental disorders, and congenital heart disease Free
SSC Genetic variants identified through whole-exome and array hybridization (for CNVs) and the SSC phenotypic data. The phenotypic data covers the complete collection of ~2,700 families and the genotypic data is comprised of published de novo variants including substitutions, short indels and CNV and transmitted substitutions and short indels called by us at CSHL from the whole-exome data of ~2,500 families. Controlled
SSC_WG Genetic variants identified by us at CSHL from the pilot whole-genome sequencing of ~500 for the SSC families and the complete SSC phenotypic data. Controlled
SPARK pilot Genetic variants identified by SFARI's team through whole-exome data for ~500 of the SPARK families plus the complete SPARK phenotypic data. Controlled
SVIP Genetic variants identified by SFARI's team from whole-exome data from ~100 of the SVIP families (mostly 16p11) plus the available SVIP phenotypic data. Controlled
http://gpf.sfari.org/gpf38 instance
Dataset Description Access
SSC WG38 CSHL 2380 Genetic variants called by us at CSHL from the whole-genome data of 2,380 of the SSC families. These datasets include de novo variants. Controlled
SSC WGS NYGC 1895 Genetic variants called by NYGC from the whole-genome data of 1,895 of the SSC families. No de novo variants have been called by NYGC. Controlled
SPARK_WES_1 Genetic variants identified by Regeneron the whole-exome data from ~6,000 of the SPARK families and phenotypic data from ~35,000 of SPARK individuals. No de novo variants have been called by NYGC. Controlled
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