Public Data Sets

ICA Cohorts comes front-loaded with a variety of publicly accessible data sets, covering multiple disease areas and also including healthy individuals.

Data set	Samples	Diseases/Phenotypes	Reference
1kGP-DRAGEN	3202 WGS: 2504 original samples plus 698 relateds	Presumed healthy	DRAGEN reanalysis of the 1000 Genomes Dataset
DDD	4293 (3664 affected), de novos only	Developmental disorders	McRae et al., Nature 19:1194-1196
EPI4K	356, de novos only	Epilepsy	Epi4K Consortium, Nature 501:217-221
ASD Cohorts	6786 (4266 affected), de novos only	Autism Spectrum disorder	Iossifov et al. Neuron 74:285-299; Iossifov et al. Nature 498:216-221; O'Roak et al. Nature 485:246-250; Sanders et al. Nature 485:237-241; Sanders et al. Neuron 87:1215-1233; De Rubeis et al. Nature 515:209-215
De Ligt et al.	100, de novos only	Intellectual disability	De Ligt et al., N Engl J Med 367:1921-1929
Homsy et al.	1213, de novos only	Congenital heart disease (HP:0030680)	Homsy et al., Science 350:1262-1266
Lelieveld et al.	820, de novos only	Intellectual disability	Lelieveld et al., Nature Neuroscience19:1194-1196
Rauch et al.	51, de novos only	Intellectual disability	Rauch et al., Lancet 380:1674-1682
Rare Genomes Project	315 WES (112 pedigrees)	Various	https://raregenomes.org/
TCGA	ca. 4200 WES, ca. 4000 RNAseq	12 tumor types	https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga
GEO	RNAseq	Auto-immune disorders, incl. asthma, arthritis, SLE, MS, Crohn's disease, Psoriasis, Sjögren's Syndrome	For GEO/GSE study identifiers, please refer to the in-product list of studies
	RNAseq	Kidney diseases	For GEO/GSE study identifiers, please refer to the in-product list of studies
	RNAseq	Central nervous system diseases	For GEO/GSE study identifiers, please refer to the in-product list of studies
	RNAseq	Parkinson's disease	For GEO/GSE study identifiers, please refer to the in-product list of studies