Public Data Sets

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