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Genetic analysis of patients with Inherited Retinal Dystrophies (IRDs) using next generation sequencing to identify the causative variants
Study
phs001619
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Whole Genome Association Study of Bipolar Disorder
Study
phs000017
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Notch Signaling and Efficacy PD-1/PD-L1 Blockade in Relapsed Small Cell Lung Cancer
Study
phs002176
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Breast Cancer Susceptibility
Study
phs001017
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Genomic Factors Involved in Chromosome Rearrangements
Study
phs000845
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Anorexia Nervosa Genetics Initiative (ANGI)
Study
phs001541
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DAXX restoration suppresses alternative lengthening of telomeres in ATRX wild-type cells
Study
phs001495
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The Two Sister Study: A Family-Based Study of Genes and Environment in Young-Onset Breast Cancer
Study
phs000678
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Identification of 22 Novel Loci Associated with Susceptibility to Testicular Germ Cell Tumors
Study
phs001349
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National Heart, Lung, and Blood Institute SNP Health Association Asthma Resource Project (SHARP)
Study
phs000166
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Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing
Study
phs000816
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University of Texas at Austin (UTA) Histone Modification and Gene Expression Profiling in 9 Primary Glioblastoma Multiforme, 2 Anaplastic Astrocytomas and Two Meningiomas
Study
phs001389
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Comparative Sequence Analysis Between Primary and Metastatic Colorectal Cancer Lesions
Study
phs000790
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Genome-Wide Association Study of Relapse of Childhood Acute Lymphoblastic Leukemia
Study
phs000638
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ASsessing and Predicting Infant RSV Effects and Severity (AsPIRES) Study
Study
phs001201
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Admixture Mapping of Staphylococcus aureus Bacteremia
Study
phs001441
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A Multimodal Atlas of Human Brain Cell Types
Study
phs001791
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The Ultrasound Study of Tamoxifen
Study
phs003183
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CRISPR-Mediated ASD Gene Knockout Reduces Neuronal Activity
Study
phs001816
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Functionally-defined Therapeutic Targets in Diffuse Intrinsic Pontine Glioma (DIPG)
Study
phs000900
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NHLBI TOPMed: Boston Early-Onset COPD Study
Study
phs000946
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Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)
Study
phs001123
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eMERGE III: Columbia GENIE (Genomic Integration with EHR)
Study
phs000961
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Childhood Cancer Data Initiative (CCDI): Identification and Targeting of Treatment Resistant Progenitor Populations in T-cell Acute Lymphoblastic Leukemia
Study
phs003432
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Gene Variants in Pheochromocytoma and Paraganglioma
Study
phs002405
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The Contribution of De Novo Coding Mutations to Meningomyelocele
Study
phs003746
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Transgenerational Transmission of Post-Zygotic Mutations Suggests Symmetric Contribution of First Two Blastomeres to Human Germline
Study
phs003781
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Recurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissue
Study
EGAS50000000584
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Whole-genome sequencing of BRCA-mutant breast cancer patient samples from tumour, germline tissue and plasma
Study
EGAS50000000569
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Transcriptomic profiles of tumor samples from patients with stage I-III TNBC treated with anthracycline-taxane chemotherapy plus fasting-mimicking diet plus/minus metformin in the context of the BREAKFAST trial (NCT04248998)
Study
EGAS50000000690
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Methylation-Based Immune Deconvolution in Prostate Cancer Patients Before and After Radical Prostatectomy
Study
phs003660
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Immune Determinants of Resistance to PD-1 Blockade in Renal Cell Carcinoma
Study
phs003618
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Next Generation Sequencing to Predict Risk of Events from Coronary Artery Disease
Study
phs003883
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Prospective Investigation of Pulmonary Embolism Diagnosis (PIOPED-BioLINCC)
Study
phs004020
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Immediate Postoperative Minimal Residual Disease Detection with MAESTRO Predicts Recurrence and Survival in Head and Neck Cancer Patients Treated with Surgery
Study
phs003981
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P4HA1 Mediates Hypoxia-Induced Invasion in Human Pancreatic Cancer Organoids
Study
phs003961
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Investigation of respiratory chain integrity in skeletal muscle in Parkinson's disease
Study
EGAS50000000671
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Human papillomavirus integration induces oncogenic host gene fusions in oropharyngeal cancers
Study
EGAS50000000892
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Epigenomics of Neurocognitive Function in Breast Cancer
Study
phs003959
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Estimating the Efficacy of Pharmacogenomics Over a Lifetime
Study
phs003454
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Disease-Linked Regulatory DNA Variants and Homeostatic Transcription Factors in Epidermis
Study
phs003977
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Detection of brain cancer using genome-wide cell-free DNA fragmentomes
Study
EGAS50000000986
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Identification of a Type 1 Diabetes-Associated T Cell Receptor Repertoire Signature from the Human Peripheral Blood
Study
phs003979
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Genetics of gene expression in primary human immune cells
Study
EGAS00000000109
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ProstOmics: spatial and bulk multi-omics of prostate cancer
Study
EGAS50000000413
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Dynamic Evolution of Fibroblasts Revealed by Single Cell RNA Sequencing of Human Pancreatic Cancer
Study
phs003751
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Highly prevalent NF-kappa B signaling pathway-activating somatic mutations in intracranial aneurysms
Study
JGAS000591
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Mutational anysis of breast cancer stem cells
Study
JGAS000304
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DEPArray-based sorting of pure carcinoma and stromal populations from formalin-fixed paraffin-embedded (FFPE) tissues followed by shallow whole genome sequencing
Study
EGAS50000001328
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Beacon v2 and Federated EGA, part of the GDI project Starter Kit to enable access to genomic and phenotypic data across borders
Blog
beacon-v2-and-federated-ega-part-of-the-gdi-project-starter-kit