22938 results for "ega"

in 147.80 milliseconds.

• Targeted capture ctDNA Library CRCQV34Run002-18

  Targeted capture ctDNA Library CRCQV34Run002-18 from patient PBC0002062, saliva sample

  Dataset EGAD00001010333

• Targeted capture ctDNA Library CRCQV34Run002-20

  Targeted capture ctDNA Library CRCQV34Run002-20 from patient PBC0002108, saliva sample

  Dataset EGAD00001010334

• Targeted capture ctDNA Library CRCQV34Run002-21

  Targeted capture ctDNA Library CRCQV34Run002-21 from patient PBC0002429, saliva sample

  Dataset EGAD00001010335

• Targeted capture ctDNA Library CRCQV34Run002-22

  Targeted capture ctDNA Library CRCQV34Run002-22 from patient PBC0002459, saliva sample

  Dataset EGAD00001010336

• Targeted capture ctDNA Library CRCQV34Run002-23

  Targeted capture ctDNA Library CRCQV34Run002-23 from patient PBC0002595, saliva sample

  Dataset EGAD00001010337

• Targeted capture ctDNA Library CRCQV34Run007-15

  Targeted capture ctDNA Library CRCQV34Run007-15 from patient PBC0001255, saliva sample

  Dataset EGAD00001010356

• Targeted capture ctDNA Library CRCQV34Run007-18

  Targeted capture ctDNA Library CRCQV34Run007-18 from patient PBC0001845, saliva sample

  Dataset EGAD00001010357

• Targeted capture ctDNA Library CRCQV34Run007-20

  Targeted capture ctDNA Library CRCQV34Run007-20 from patient PBC0002680, saliva sample

  Dataset EGAD00001010358

• Targeted capture ctDNA Library CRCQV34Run011-18

  Targeted capture ctDNA Library CRCQV34Run011-18 from patient PBC0001432, saliva sample

  Dataset EGAD00001010370

• Targeted capture ctDNA Library CRCQV34Run011-20

  Targeted capture ctDNA Library CRCQV34Run011-20 from patient PBC0001673, saliva sample

  Dataset EGAD00001010371

• Targeted capture ctDNA Library CRCQV34Run011-21

  Targeted capture ctDNA Library CRCQV34Run011-21 from patient PBC0002255, saliva sample

  Dataset EGAD00001010372

• Targeted capture ctDNA Library CRCQV34Run011-14

  Targeted capture ctDNA Library CRCQV34Run011-14 from patient PBC0001224, saliva sample

  Dataset EGAD00001010368

• Targeted capture ctDNA Library CRCQV40Run027-10

  Targeted capture ctDNA Library CRCQV40Run027-10 from patient PBC0004414, saliva sample

  Dataset EGAD00001010387

• Targeted capture ctDNA Library CRCQV40Run027-11

  Targeted capture ctDNA Library CRCQV40Run027-11 from patient PBC0004565, saliva sample

  Dataset EGAD00001010388

• Targeted capture ctDNA Library CRCQV40Run027-7

  Targeted capture ctDNA Library CRCQV40Run027-7 from patient PBC0003364, saliva sample

  Dataset EGAD00001010396

• Targeted capture ctDNA Library CRCQV40Run027-8

  Targeted capture ctDNA Library CRCQV40Run027-8 from patient PBC0004076, saliva sample

  Dataset EGAD00001010397

• Targeted capture ctDNA Library CRCQV40Run027-9

  Targeted capture ctDNA Library CRCQV40Run027-9 from patient PBC0004350, saliva sample

  Dataset EGAD00001010398

• Targeted capture ctDNA Library CRCQV42Run020-23

  Targeted capture ctDNA Library CRCQV42Run020-23 from patient PBC0001310, saliva sample

  Dataset EGAD00001010428

• Targeted capture ctDNA Library CRCQV42Run020-15

  Targeted capture ctDNA Library CRCQV42Run020-15 from patient PBC0001315, saliva sample

  Dataset EGAD00001010427

• Targeted capture ctDNA Library CRCQV42Run021-23

  Targeted capture ctDNA Library CRCQV42Run021-23 from patient PBC0001516, saliva sample

  Dataset EGAD00001010444

• Targeted capture ctDNA Library CRCQV42Run021-24

  Targeted capture ctDNA Library CRCQV42Run021-24 from patient PBC0001653, saliva sample

  Dataset EGAD00001010445

• Targeted capture ctDNA Library CRCQV42Run021-19

  Targeted capture ctDNA Library CRCQV42Run021-19 from patient PBC0001299, saliva sample

  Dataset EGAD00001010441

• Targeted capture ctDNA Library CRCQV42Run021-21

  Targeted capture ctDNA Library CRCQV42Run021-21 from patient PBC0001323, saliva sample

  Dataset EGAD00001010442

• Targeted capture ctDNA Library CRCQV42Run021-22

  Targeted capture ctDNA Library CRCQV42Run021-22 from patient PBC0001470, saliva sample

  Dataset EGAD00001010443

• Targeted capture ctDNA Library CRCQV42Run022-17

  Targeted capture ctDNA Library CRCQV42Run022-17 from patient PBC0002744, saliva sample

  Dataset EGAD00001010452

• Targeted capture ctDNA Library CRCQV42Run022-16

  Targeted capture ctDNA Library CRCQV42Run022-16 from patient PBC0002406, saliva sample

  Dataset EGAD00001010451

• Targeted capture ctDNA Library CRCQV42Run024-20

  Targeted capture ctDNA Library CRCQV42Run024-20 from patient PBC0001589, saliva sample

  Dataset EGAD00001010470

• Targeted capture ctDNA Library CRCQV42Run025-13

  Targeted capture ctDNA Library CRCQV42Run025-13 from patient PBC0003334, saliva sample

  Dataset EGAD00001010479

• Targeted capture ctDNA Library CRCQV42Run025-17

  Targeted capture ctDNA Library CRCQV42Run025-17 from patient PBC0003595, saliva sample

  Dataset EGAD00001010481

• Targeted capture ctDNA Library CRCQV42Run025-12

  Targeted capture ctDNA Library CRCQV42Run025-12 from patient PBC0003014, saliva sample

  Dataset EGAD00001010478

• Targeted capture ctDNA Library CRCQV42Run026-24

  Targeted capture ctDNA Library CRCQV42Run026-24 from patient PBC0005064, saliva sample

  Dataset EGAD00001010495

• Targeted capture ctDNA Library CRCQV42Run026-21

  Targeted capture ctDNA Library CRCQV42Run026-21 from patient PBC0003587, saliva sample

  Dataset EGAD00001010493

• Targeted capture ctDNA Library CRCQV42Run026-22

  Targeted capture ctDNA Library CRCQV42Run026-22 from patient PBC0003364, saliva sample

  Dataset EGAD00001010494

• Targeted capture ctDNA Library CRCQV42Run029-21

  Targeted capture ctDNA Library CRCQV42Run029-21 from patient PBC0001353, saliva sample

  Dataset EGAD00001010515

• Targeted capture ctDNA Library CRCQV42Run029-17

  Targeted capture ctDNA Library CRCQV42Run029-17 from patient PBC0004173, saliva sample

  Dataset EGAD00001010514

• Targeted capture ctDNA Library CRCQV42Run051-11

  Targeted capture ctDNA Library CRCQV42Run051-11 from patient PBC0002989, plasma sample

  Dataset EGAD00001010805

• Targeted capture ctDNA Library CRCQV42Run051-12

  Targeted capture ctDNA Library CRCQV42Run051-12 from patient PBC0001516, plasma sample

  Dataset EGAD00001010806

• Targeted capture ctDNA Library CRCQV42Run051-13

  Targeted capture ctDNA Library CRCQV42Run051-13 from patient PBC0001319, plasma sample

  Dataset EGAD00001010807

• Targeted capture ctDNA Library CRCQV42Run051-14

  Targeted capture ctDNA Library CRCQV42Run051-14 from patient PBC0002989, plasma sample

  Dataset EGAD00001010808

• Targeted capture ctDNA Library CRCQV42Run051-4

  Targeted capture ctDNA Library CRCQV42Run051-4 from patient PBC0001224, plasma sample

  Dataset EGAD00001010818

• Targeted capture ctDNA Library CRCQV42Run051-5

  Targeted capture ctDNA Library CRCQV42Run051-5 from patient PBC0002533, plasma sample

  Dataset EGAD00001010819

• Targeted capture ctDNA Library CRCQV42Run051-6

  Targeted capture ctDNA Library CRCQV42Run051-6 from patient PBC0002995, plasma sample

  Dataset EGAD00001010820

• Targeted capture ctDNA Library CRCQV42Run42-10

  Targeted capture ctDNA Library CRCQV42Run42-10 from patient PBC0003643, saliva sample

  Dataset EGAD00001010823

• H3Africa TrypanoGEN+ Fastq

  TrypanoGEN+ data containing fastq files of 183 samples from DRC, Malawi and Uganda using NextSeq500.

  Dataset EGAD00001011666

• Direct RNA sequencing of 10 postmortem human brain samples

  Contains fast5 data for each of the 10 samples sequenced.

  Dataset EGAD00001015347

• Spatial mapping of skin fibroblasts

  10x Visium section (lesional skin - atopic dermatitis) used to map location of skin fibroblasts.

  Dataset EGAD00001015704

• Targeted capture ctDNA Library CRCQV34Run002-14

  Targeted capture ctDNA Library CRCQV34Run002-14 from patient PBC0001051, saliva sample

  Dataset EGAD00001010331

• Targeted capture ctDNA Library CRCQV34Run002-16

  Targeted capture ctDNA Library CRCQV34Run002-16 from patient PBC0001627, saliva sample

  Dataset EGAD00001010332

• Targeted capture ctDNA Library CRCQV42Run018-20

  Targeted capture ctDNA Library CRCQV42Run018-20 from patient PBC0001859, saliva sample

  Dataset EGAD00001010418

• Targeted capture ctDNA Library CRCQV42Run041-9

  Targeted capture ctDNA Library CRCQV42Run041-9 from patient PBC0001404, saliva sample

  Dataset EGAD00001010639

• nNGM analysis of treatment-naive MIBC and NMIBC

  nNGM analysis of treatment-naive MIBC (N=49) and NMIBC (N=16).

  Dataset EGAD00001010899

• HLA sequence data and final calls for VaccGene and 1000Gp3 African populations

  HLA sequence data and final calls for VaccGene and 1000Gp3 African populations

  Dataset EGAD00001011379

• WES data for study of the microenviroment of angioimmunoblastic T-cell lymphoma

  Exome sequencing data for study of the microenviroment of angioimmunoblastic T-cell lymphoma

  Dataset EGAD00001011581

• Dataset of CageKid Tumor DNA samples

  Dataset of CageKid Tumor DNA samples

  Dataset EGAD00001000717

• Exome sequencing Wilms tumour

  Exome sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families.

  Dataset EGAD00001001003

• Chugai colorectal organoid sequencing

  Genomic and transcriptomic characterization of drug-resistant colon cancer stem cell lines.

  Dataset EGAD00001001446

• RTKs in Multiple Myeloma

  Cancer amplicon reads consisting of BAM paired end reads from primary multiple myeloma samples.

  Dataset EGAD00001001935

• AML exome sequencing

  Raw data (fastq files) from whole exome sequencing of AML patients (paired diagnosis and complete remission samples)

  Dataset EGAD00001002116

• mRNA-Seq dataset

  mRNA-Seq, HiSeq 2000 dataset of the Cell-line use case

  Dataset EGAD00001002250

• RNA sequencing of 31 pancreatic cancer organiods

  RNA sequencing of 31 pancreatic cancer organiods

  Dataset EGAD00001005217

• RNA sequencing BRAF fusion partners

  Contains RNAseq data for 14 transduced/non-transduced organoids

  Dataset EGAD00001005380

• TST170 Pilot RNA VCF

  TST170 Pilot RNA VCF

  Dataset EGAD00001005710

• subset of dataset EGAD00001002528, as used in EGAS00001004517

  linking 3 samples out of EGAD00001002528 to EGAS0001004517

  Dataset EGAD00001006263

• INSPIRE whole exome sequencing - Germline control

  Updated INSPIRE whole exome sequencing data: PBMC controls

  Dataset EGAD00001006562

• INSPIRE RNA-seq tumors

  INSPIRE whole transcriptome sequencing of tumors

  Dataset EGAD00001006564

• WGS set of BCL11B panALL

  Whole genome sequencing of 29 samples

  Dataset EGAD00001006905

• WGS data for MMML for Study EGAS00001002198

  Whole genome sequencing data for MMML (cell_line)

  Dataset EGAD00001003210

• RNAseq of fibroblasts

  RNA sequencing data of fibroblasts from 3 controls and 3 patients with RBMX variants.

  Dataset EGAD50000002371

• Clinical validity of post-surgery circulating tumor DNA (ctDNA) in stage III colon cancer patients treated with adjuvant chemotherapy: the PROVENC3 study

  The PROVENC3 study aimed to determine the clinical validity of post-surgery ctDNA testing in patients with stage III colon cancer treated with adjuvant chemotherapy (ACT). Blood was collected pre-surgery, post-surgery and post-adjuvant chemotherapy. Tumor-informed plasma ctDNA detection was performed through integrated whole genome sequencing (WGS) analyses of formalin-fixed paraffin-embedded tumor tissue DNA (80x), white blood cell germline DNA (40x) and plasma cell-free DNA (30x). These raw WGS data for 209 patients are shared in .cram format in this EGA submission.

  Study EGAS50000000804

• The EGA Helpdesk team: 2025 in review and what we are building next

  Behind every dataset submitted, every access request processed, and every technical question answered, there is a team working quietly to keep things moving: the Helpdesk (HD). With the onset of 2026, this feels like the right moment to look back on what 2025 has been like for the HD team: the challenges we faced, how we adapted, and where we're heading next. Why the Helpdesk matters to EGA The EGA Helpdesk is more than a support channel. It plays a key role in maintaining trust in the EGA ecosystem. By supporting data submitters, researchers, Data Access Committees (DACs), and institutional partners, the HD helps ensure that data can flow securely, efficiently, and reliably. When issues arise, the Helpdesk is often the first place where their impact is felt and addressed. In that sense, the HD sits at the intersection of technology, policy, and people. One Helpdesk, two locations, one shared mission The EGA Helpdesk is a joint, distributed team working closely across two locations: CRG (Barcelona, Spain) and EMBL-EBI (Cambridge, UK). Although we are based in different institutions, we operate as a single Helpdesk, with shared workflows, priorities, and responsibility towards users. At CRG, the HD team is formed by: Andrea Max Àlex and me At EMBL-EBI, we work closely with: Silvia Coline Aravind What defines us as a team is simple: we work user-first, even under pressure. In a highly technical environment, clarity, empathy, and consistency matter just as much as tools and processes. A close collaboration across sites is essential to making that happen. What does the EGA Helpdesk do? The HD supports users across the full lifecycle of data in EGA. This includes: Data submissions, uploads, and encryption workflows. Data access requests and permissions. Questions around policies, consent, and data usage. Technical and system-related issues. Coordination between users, internal teams, and external partners. 2025: growth, change, and recalibration 2025 was a year of growth, but not always a predictable one. Early in the year, several technical and system-related challenges required us to adjust our original plans. Priorities shifted, timelines changed, and some improvements had to be rethought. For the HD team, this is often the hardest part of the job: we see delays through the eyes of users and understand the real impact they can have on ongoing research. One of the key lessons from 2025 was that stability is not only a technical challenge, but also an organisational one. Teamwork proved to be essential: anticipating peak periods, sharing context early, and coordinating closely across teams made a tangible difference. When things became complex, working together across roles and locations was what allowed us to keep moving forward. In 2025, the Helpdesk received 5.313 tickets and resolved 5.511 requests, reflecting both increased adoption of EGA and the team’s ability to absorb higher demand. At the same time, demand continued to grow. Compared to 2024, ticket creation increased by over 6%, while resolution capacity grew by more than 11%. The team not only kept up with incoming requests but also resolved part of the accumulated backlog, finishing the year having solved more tickets than were created. The real challenge of 2025 was not overall performance, but how the workload was concentrated during peak months. Seasonality and demand spikes placed pressure on the system, even while overall efficiency remained strong. On a team level, 2025 was also a year of transition. I joined the HD leadership role in January 2025, stepping into a period of change and rapid learning. Later in the year, in October, we said goodbye to Raül, and in January 2026, we welcomed Àlex, strengthening the team for the next phase. What users needed most in 2025 While requests vary widely, some themes stood out throughout the year: Support with data submissions and uploads Data access requests and permissions Technical and system-related issues As EGA matures, day-to-day operations have become more complex. Many long-running tickets are not delayed due to a lack of follow-up, but because they depend on external approvals, cross-institutional coordination, or multi-step processes. Understanding these patterns helps us focus not just on resolving tickets, but on improving how work flows through the system. Looking ahead to 2026 With a reinforced team and clearer insights from 2025, our focus for 2026 shifts from throughput to flow. Key priorities include: Strengthening our web content and documentation Reducing structural backlog Improving cross-team and cross-system coordination Anticipating peak demand earlier and planning capacity accordingly Challenges will continue to arise in 2026, as they always do. However, 2025 reinforced something important: a stable, empathetic, and well-aligned Helpdesk team is essential to supporting EGA's mission at scale. Supporting users well means supporting research, and that remains at the core of what we do.

  Blog ega-helpdesk-team-2025-in-review-and-upcoming-improvements

• Whole_exome_sequencing_of_Severe_Insulin_Resistant_patients_

  Illumina paired-end sequencing of whole- exome pulldown DNA from Severe Insulin Resistant patients.

  Study EGAS00001000025

• Identification_and_functional_validation_of_driver_mutations_in_colorectal_cancer

  Targeted exome sequencing of human colorectal cancers for the identification of novel cancer drivers.

  Study EGAS00001000044

• This committee is composed on individuals who have access to the data corresponding to this project: Gut microbiome modulates response to anti PD-1 immunotherapy in melanoma patients

  Dac EGAC00001000758

• EGAD00000000014

  WTCCC1 project samples from 1958 British Birth Cohort

  Dataset EGAD00000000014

• EGAD00000000114

  Whole transcriptome sequence data from 18 ovarian clear-cell carcinoma samples and one TOV21G ovarian clear-cell carcinoma cell line

  Dataset EGAD00000000114

• EGAD00010000266

  Metabric breast cancer samples (Genotype raw data)

  Dataset EGAD00010000266

• EGAD00010000288

  All cases and Finnish, Dutch, Italian control samples (Hap550)

  Dataset EGAD00010000288

• EGAD00010000292

  All cases and Finnish, Dutch, Italian control samples (Hap300)

  Dataset EGAD00010000292

• Breast Cancer Matched Pair Cell Line Whole Genomes

  Breast Cancer Matched Pair Cell Line Whole Genomes

  Dataset EGAD00001000130

• ICGC Prostate Cancer Whole Genome Sequencing

  A small subsample of EGAD00001000689. Please do not use.

  Dataset EGAD00001000263

• UK10K_OBESITY_GS REL-2012-11-27

  UK10K_OBESITY_GS REL-2012-11-27

  Dataset EGAD00001000309

• VCF file, post sample QC

  This VCF contains the full sequence data post QC. This consists of 41,911 individuals. All polymorphic sites are present in this VCF.

  Dataset EGAD00001000623

• Carcinoma of the oral tongue (OTSCC) genomic landscape characterisation

  18 Exomes for discovery set and 60 Targeted panel for prevalence set

  Dataset EGAD00001001465

• GabonDiv_SNP_genotyping

  Genome-wide SNP genotyping data for 1,235 western Africans by Illumina HumanOmniExpress-12 array, used in the EGAS00001002078 study

  Dataset EGAD00010001209

• cqmuGWAS2

  DNA for 2482 individuals from Chongqing was extract from peripheral blood and genotyped by Illumina Omni Zhonghua-8 version 2 gene chips.

  Dataset EGAD00010001526

• Whole exome sequencing of bulk primary tumor (and one lymph node metastasis) and matched blood of six non-metastatic breast cancer patients

  Dataset EGAD00001002746

• RNAseq_Landscape

  RNAseq reads were aligned with STAR 2.5.3a and gene expression was quantified with RSEM 1.3.0

  Dataset EGAD00010001703

• Multi-omics RNA profiling of glioblastoma patient tissues

  Multi-omics profiling of paired primary and recurrent glioblastoma patient tissues

  Dataset EGAD00010001895

• Mapping the breast cancer metastatic cascade onto circulating tumour DNA using genetic and epigenetic clonal tracking

  Dataset EGAD00001005507

• Single-cell RNA-Seq of CAF-S1 sub-population of Fibroblast in breast Cancer tumors

  Dataset EGAD00001006163

• Whole-genome sequencing of a thyroid carcinoma harboring a ETV6-NTRK3 fusion and a NTRK3 G623R mutation (HIPO-021)

  Dataset EGAD00001006243

• Array data for oesophageal and related samples - aks_paper_methyl_barretts_release

  Array data for oesophageal and related samples - aks_paper_methyl_barretts_release

  Dataset EGAD00010001972

• Genetic and transcriptomic landscape of DLBCL

  Affymetrix SNP6.0 data for 341 DLBCL patients

  Dataset EGAD00010001980

• methylation_ec

  Raw methylation data from cervical samples in individuals with endometrial cancer.

  Dataset EGAD00010002084

• methylation_oc

  Raw methylation data from cervical samples in individuals with ovarian cancer.

  Dataset EGAD00010002086

• Liv_PTB_Genomics

  Liverpool Preterm Birth Biomarker Study Genomics

  Dataset EGAD00010002066

• SNP array karyotyping of upper urinary tract urothelial carcinoma

  Genome-wide copy number analysis of upper urinary tract urothelial carcinoma using GeneChip Human Mapping 250K Nspl

  Dataset EGAD00010002098

• Methylation_PBL_male_PSCUC

  Whole-genome DNA methylation profiling of PBL obtained from male patients with PSC-UC, or UC alone, or healthy individuals.

  Dataset EGAD00010002277

• Methylation files for Roussel-ATRT-TM

  Methylation files for Roussel-ATRT-TM paper titled "Atypical teratoid/ rhabdoid tumoroids reveal subgroup-specific drug vulnerabilities"

  Dataset EGAD00010002357

• BelCovid_2_genotype

  Cohort: Raw genotype files for BelCovid2 cohort. Genotype Chip: Illumina Global Screening Array-24 v3.0 + Multi-Disease beadchip genomic build: b37

  Dataset EGAD00010002179