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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

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

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