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Emirati T2T Assembly
Study
EGAS50000001235
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Exome_sequencing_of_a_Novel_Primary_T_Cell_Immunodeficiency_Kindred
Study
EGAS00001000099
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Using human induced pluripotent stem cell-derived oligodendrocytes to explore cellular phenotypes associated with t(1;11) translocation.
Study
EGAS00001004595
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Identification and functional characterisation of a rare MTTP variant underlying familial non-alcoholic fatty liver disease
Study
EGAS00001005254
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A catalog of the genetic causes of Hereditary Angioedema in the Canary Islands (Spain)
Study
EGAS00001006547
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RNAseq data of polyA+ RNA from Leukocytes from 624 individuals of the SardiNIA cohort.
Study
EGAS00001002105
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Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathie
Study
EGAS00001002506
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Genomic profile of sporadic multiple meningiomas
Study
EGAS00001005700
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Splicing patterns in SF3B1 mutated uveal melanoma generate shared immunogenic tumor-specific neo-epitopes
Study
EGAS00001005226
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Germline elongator mutations in sonic hedgehog medulloblastoma
Study
EGAS00001004126
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UK10K NEURO IOP COLLIER
Study
EGAS00001000121
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Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma
Study
EGAS00001007426
-
Understanding human fetal pancreas development using subpopulation sorting and RNA sequencing
Study
EGAS00001003127
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Single cell chromatin accessibility allows analysis of the transposable element landscape, revealing shared features of immune tissue-residency
Study
EGAS50000000350
-
Oncogenic FOXL2C134W has gain-of-function chromatin remodeling activity that reprograms glucocorticoid receptor occupancy to promote ovarian granulosa cell tumor growth
Study
EGAS50000000622
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Germline and somatic SMARCA4 mutations characterize small-cell carcinoma of the ovary, hypercalcemic type.
Study
EGAS00001000721
-
Integrated genomic characterization of IDH1 mutant Glioma malignant progression
Study
EGAS00001001588
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Latency and interval therapy affect the evolution in metastatic colorectal cancer
Study
EGAS00001003646
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New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Study
EGAS00001001632
-
Genetic and immune landscape evolution defines subtypes of MMR deficient colorectal cancer
Study
EGAS00001005769
-
Rare occurrence of Aristolochic Acid Mutational Signatures in Oro-Gastrointestinal Tract Cancers
Study
EGAS00001005909
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ARHGAP11A Maintains Cortical Progenitor Identity Through RHOA–ROCK Signalling During Human Brain Development
Study
EGAS00001008322
-
WGS of pre-T cell receptor-alpha immunodeficiency proband and family
Study
EGAS50000000609
-
Clinical and Molecular Investigation of Familial CEBPA-mutated Acute Myeloid Leukaemia
Study
EGAS00001000949
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Whole genome sequencing of tumour and matched normal from patients with family history of breast cancer
Study
EGAS00001003305
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Hofer et al., A specific subpopulation of cancer-associated fibroblasts promotes resistance to chemotherapy in triple-negative breast cancer by upregulating G0S2 protein
Study
EGAS50000000886
-
Genome-wide prediction of human embryos
Study
EGAS00001001020
-
Serum proteomics of aortic diseases
Study
EGAS00001006201
-
scRNASeq of human innate lymphoid cells from different compartments
Study
EGAS00001006847
-
Human NXPE1 mediates variation in sialic acid O-acetylation in Colon Tissue
Study
EGAS00001007704
-
WTCCC2 Visceral Leishmaniasis (VL) samples
Study
EGAS00001000773
-
Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma
Study
EGAS00001002812
-
Identification of Germline Monoallelic Mutations in IKZF2 in Patients with Immune Dysregulation.
Study
EGAS00001005874
-
H3Africa - Identification and characterization of novel hereditary neurological disease genes in Mali.
Study
EGAS00001003016
-
Genentech Colon Cancer Screen
Study
EGAS00001000288
-
The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels
Study
EGAS00001003239
-
Integrative Multi-Omics and Drug Sensitivity Profiling Reveals Potential Predictive Biomarkers in Pediatric Solid Tumors from the INFORM Registry
Study
EGAS00001008249
-
Comprehensive genomic profiles of small cell lung cancer
Study
EGAS00001000925
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Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
Study
EGAS00001002485
-
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Study
EGAS50000000481
-
Genome wide variation in the Angolan Namib desert reveals unique Pre-Bantu ancestry
Study
EGAS00001007011
-
Machine learning to detect the SINEs of cancer
Study
EGAS00001007169
-
UK10K NEURO ASD GALLAGHER
Study
EGAS00001000112
-
H3.3G34R/V-transformed interneuron progenitors co-opt PDGFRA for gliomagenesis
Study
EGAS00001004301
-
Genome-wide association study identifies common variants associated with breast cancer in South African Black women
Study
EGAS00001008032
-
An autoinflammatory RIG-I variant causing Singleton-Merten Syndrome associates with small non-coding Y-RNAs
Study
EGAS50000001660
-
UK10K NEURO ASD SKUSE
Study
EGAS00001000114
-
Confronting historical legacies of biological anthropology in South Africa—Restitution, redress and community-centered science: The Sutherland Nine
Study
EGAS50000000971
-
Recurrent somatic DICER1 mutations in non-epithelial ovarian tumors
Study
EGAS00001000135
-
UK10K NEURO EDINBURGH
Study
EGAS00001000117