-
PIEZO1 Loss of Function Compound Heterozygous Mutation in the Rare Congenital Human Disorder Prune Belly Syndrome
Study
phs003475
-
A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma
Study
EGAS00001001805
-
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome
Study
EGAS00001007937
-
Structure and evolution of double minutes in diagnosis and relapse brain tumors
Study
EGAS00001003212
-
Study on the consequences of prenatal famine exposure on DNA methylation.
Study
EGAS00001000668
-
H3Africa - Identification and characterization of novel hereditary neurological disease genes in Mali.
Study
EGAS00001003016
-
Identification of genetic mutations characteristic for recurrence of serous ovarian cancer.
Study
JGAS000104
-
Identification of 22 Novel Loci Associated with Susceptibility to Testicular Germ Cell Tumors
Study
phs001349
-
CRC Promoter capture Hi-C
Study
EGAS00001001946
-
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysm in humans
Study
EGAS00001005518
-
Whole Exome Sequencing of Chronic Lymphocytic Leukemia
Study
phs000435
-
The Southern African Human Genome Programme
Study
EGAS00001002639
-
ATAC-seq for 2 samples
Dataset
EGAD50000001791
-
Recurrent epimutations activate gene body promoters in primary glioblastoma
Study
EGAS00001000685
-
Improved Sezary cell detection and novel insights into immunophenotypic and molecular heterogeneity in Sézary syndrome
Study
EGAS00001005229
-
Whole Exome Sequencing of Colorectal Cancer Patients from the Nurses' Health Study (NHS) and Health Professionals Follow-up Study (HPFS)
Study
phs000722
-
Prostate Cancer Genome Sequencing Project
Study
phs000447
-
Mongolia Western HCC
Study
EGAS00001005364
-
RNA sequencing of a glioblastoma PDX cohort
Study
EGAS00001007119
-
Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to the Antibody Drug Conjugate Sacituzumab Govitecan
Study
phs002555
-
Rare germline variants in patients with personal and family history of colorectal cancer
Dataset
EGAD50000000861
-
Novel genome editing strategies to uncover genotype-phenotype correlations in Polycystic Kidney Disease: a proof-of-concept
Study
EGAS50000001188
-
Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population
Study
EGAS00001002641
-
Linking genes, genomic instability and molecular subgroups in medulloblastoma
Study
EGAS00001000085
-
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Study
EGAS00001000226
-
Integrative Molecular Characterization of Breast Cancer
Study
phs002419
-
Resistance to anti-EGFR therapy in colorectal cancer
Study
EGAS00001000582
-
Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia
Study
phs001245
-
Genome-Wide Association Study of Lung Cancer Susceptibility in Never-Smoking Women in Asia
Study
phs000716
-
ABIS_1_MeDIP-seq
Study
EGAS00001001099
-
Genetics of Prostate Cancer in Africa
Study
phs002718
-
Longitudinal Multi-Omic Immune Resource Reveals Dynamic Responses in Healthy Human Aging
Study
phs003841
-
Tumor Evolution Analysis Uncovered Immune-Escape Related Mutations in Relapsed Diffuse Large B-Cell Lymphoma
Study
EGAS50000000032
-
Single-cell Transcriptome Profiling of Treatment-naïve and Post-treatment Colorectal Cancer: Insights into Putative Mechanisms of Chemoresistance
Study
EGAS50000000830
-
Screening Cases of Isolated Dystonia for Variants in CIZ1
Study
phs001455
-
Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians
Study
phs002025
-
IKZF5 RNAseq samples for platelets, neutrophils, monocytes and CD4+ T-cells.
Dataset
EGAD00001005107
-
Enhancer profiling identifies epigenetic markers of endocrine resistance and reveals therapeutic options for metastatic castration-resistant prostate cancer patients (LuCaP cell line data)
Study
EGAS50000000917
-
Healthy_ageing_thymus
Study
EGAS00001004311
-
Preclinical Pediatric Molecular Analysis for Therapy Choice (MATCH)
Study
EGAS00001008011
-
Whole exome sequencing data for paired non-serous endometrial and ovarian carcinomas from 27 patients with concurrent tumours.
Study
EGAS00001008259
-
Whole-exome sequencing of Fanconi anemia
Study
EGAS00001001103
-
Novel optineurin frameshift insertion causing familial frontotemporal dementia and parkinsonism without amyotrophic lateral sclerosis
Dataset
EGAD00001007526
-
Ashkenazi Jewish Leukoencephalopathy
Study
EGAS00001001767
-
The genomic landscape of pediatric acute lymphoblastic leukemia
Study
EGAS00001005250
-
Organoid cultures of early-onset colorectal cancers reveal distinct and rare genetic profiles
Study
EGAS00001004063
-
Targeting FGFR1 for treatment of soft-tissue sarcoma (H021)
Study
EGAS00001001844
-
cfDNA in Hereditary And High-Risk Malignancies (CHARM)
Study
EGAS00001006539
-
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Dataset
EGAD00001005950
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: Multimodal Developmental Neurogenetics of Females
Study
phs002043
-
Center for Common Disease Genomics [CCDG] - Neuropsychiatric: Genomics of Autism Spectrum Disorder (GASD)
Study
phs002509
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: Homozygosity Mapping Consortium for Autism (HMCA)
Study
phs001894
-
Center for Common Disease Genomics [CCDG] - Neuropsychiatric: Simons Searchlight
Study
phs002512
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: Autism Center of Excellence (ACE II)
Study
phs002042
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: Study of Autism Genetics Exploration (SAGE)
Study
phs001740
-
Center for Common Disease Genomics (CCDG)-Neuropsychiatric: A Study of the Genetic Causes of Complex Pediatric Disorders (CAG)
Study
phs002004
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: Autism Genetic Resource Exchange
Study
phs001766
-
Center for Common Disease Genomics (CCDG) Neuropsychiatric: The Autism Simplex Collection (TASC)
Study
phs001741
-
Whole genome sequencing of Sinonasal hemangiopericytoma and patient derived cell line model
Dataset
EGAD50000000038
-
Sorted WGS for three samples
Dataset
EGAD50000001792
-
IBDCA_Edinburgh
Dataset
EGAD00001001330
-
Dataset for EGAS00001007937
Dataset
EGAD00001015412
-
SmMIP-tools:a computational toolset for processing and analysis of single-molecule molecular inversion probes derived data
Study
EGAS00001005359
-
Development of Novel Chondrosarcoma Organoid Models for Drug Discovery
Study
JGAS000834
-
Chromatin remodeling enhances MAP3K8 expression in HAM: a key pathogenesis for therapeutic intervention
Study
JGAS000835
-
Analysis of Somatic Mutations in Pediatric AML FAB-M7 Subtype by Whole Transcriptome Sequencing
Study
phs000413
-
HiC (chromosomal conformation capture) data for Oncogenic 3D genome conformations identify novel therapeutic targets in ependymoma
Dataset
EGAD00001008801
-
The identification of genetic vulnerabilities in head and neck cancers for the development of novel treatments. (2019-06-10)
Dataset
EGAD00001005082
-
Whole genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
Dataset
EGAD00001006084
-
TIRE-seq: an Integrated Sample Extraction and Transcriptomics Workflow for High Throughput Perturbation Studies
Study
EGAS50000000867
-
Observational studies using advanced analytical techniques to understand the biological functions of kidney component cells
Study
JGAS000736
-
An Ultrasensitive Method for Detection of Cell-Free RNA
Study
phs004091
-
Spatial Profiling of Patient-Matched HER2 Positive Gastric Cancer Reveals Resistance Mechanisms to Trastuzumab and Trastuzumab Deruxtecan Sequencing
Study
EGAS50000000636
-
ERDERA Diagnostic Research Workstream - WES reanalysis (distributed approach)
Study
EGAS50000001514
-
WGS of breast cancer diagnosed during pregnancy and matched control
Study
EGAS00001002685
-
Targeted_sequencing_of_genes_recurrently_mutated_in_AML___part2
Study
EGAS00001000570
-
Whole_Exome_Sequencing_for_Characterization_of_Disease_Causing_Mutations_in_two_Pakistani_Families_Suffering_from_Autosomal_Recessive_Ocular_Disorders_
Study
EGAS00001000026
-
Whole Genome Sequencing of Bilateral Cleft Lip and Palate Families from Africa: CIDR
Study
phs002623
-
Epigenomics of Prostate Cancer from Cell Free Plasma
Study
phs003482
-
human CMV-specific CD8+ T cells
Study
EGAS50000000633
-
Feasibility study of enzymatic methylation sequencing of cell-free DNA from cerebrospinal fluid of pediatric brain tumors for classification
Study
EGAS50000000871
-
Research for candidate genes of splenic epidermoid cyst
Study
JGAS000008
-
An autoinflammatory RIG-I variant causing Singleton-Merten Syndrome associates with small non-coding Y-RNAs
Study
EGAS50000001660
-
Integrated clinical, whole genome, and transcriptome analysis of multisampled lethal metastatic prostate cancer
Study
EGAS00001001659
-
Genetic Epidemiology Network of Salt Sensitivity (GenSalt)
Study
phs000784
-
A novel Patient-Derived 3D Model Recapitulates Mantle Cell Lymphoma Lymph Node Signaling, Immune Profile and in vivo Ibrutinib Responses
Study
EGAS00001006964
-
Rare Cancer Tumors Project
Study
phs000725
-
Genome-Wide Predictors of Treatment-Related Toxicities in SWOG S0221 Trial
Study
phs001428
-
small RNA-sequencing and RNA-sequencing of human brain tissue with temporal lobe epilepsy
Dataset
EGAD00001005735
-
Neurogenetic Investigations of Obsessive-Compulsive Disorder
Study
phs001929
-
Epilepsy Genetics Initiative
Study
phs001551
-
Identification of putative multiple myeloma (MM) susceptibility genes
Study
EGAS50000001259
-
Proteomic Characterization of Intrahepatic Cholangiocarcinoma Identifies Risk-Stratifying Subgroups, Proteins Associated with Time-To-Recurrence, and mTOR Effector Molecule EIF4A1 as a Druggable Therapeutic Target
Study
EGAS50000001343
-
Whole genome sequencing of tumor samples from advanced pre-treated NSCLC patients recruited in a phase I/II single-arm trial utilising CVA21, an oncolytic coxsackie virus, in combination with pembrolizumab.
Study
EGAS00001008258
-
GM adipose tissue study
Study
EGAS00001007126
-
ExomeSeq Neoantigen Immunogenicity Landscapes
Study
EGAS00001007508
-
RNASeq Neoantigen Immunogenicity Landscape
Study
EGAS00001007509
-
Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors
Study
EGAS00001000906
-
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high risk disease
Study
EGAS00001003071
-
Identification of 19 novel loci reveals gene regulatory mechanisms determining susceptibility to testicular germ cell tumour
Study
EGAS00001001836