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• Mater Research Translational Bioinformatics DAC

  Data Access Committee for controlled-access sequence data published by the Translational Bioinformatics Group at the Mater Research Institute (Brisbane, Australia).

  Dac EGAC50000000755

• DAC for the study EGAS00001001738

  Dac EGAC00001000450

• Sensitive gene analysis of hereditary cardiovascular disease

  This research aims to identify disease sensitive genes and their gene variants by genome analysis for hereditary cardiovascular diseases.

  Study JGAS000295

• Whole genome sequencing of AML samples at presentation, remission, and relapse

  Whole genome sequencing of AML blood or bone marrow at presentation and remission for 5 patients. Relapse samples are included for 2 patients, totaling 12 WGS BAM files.

  Dataset EGAD00001005120

• RNAseq for CIAO Clinical Trial

  RNAseq (QuantSeq) from FFPE tissues for the CIAO clinical trial

  Dataset EGAD50000001676

• cfDNA methylation dataset for colon cancer

  Enzymatic conversion-based methylation sequencing data (EM-seq) for colon cancer used in the MESA study

  Dataset EGAD50000000075

• HCC.GNE RNA-Seq

  RNA-Sequencing data (raw read sequences) for 23 samples, from 12 patients, for the study "Diverse modes of genomic alterations in Hepatocellular Carcinoma"

  Dataset EGAD00001000886

• Thymic epithelial transplantation for complete DiGeorge syndrome: RNA (2025-10-02)

  Single cell transcriptomics study of thymic transplant biopsies . This dataset contains all the data available for this study on 2025-10-02.

  Dataset EGAD00001015721

• IMpower133 processed RNA-seq data whole transcriptome

  This dataset contains log2(TPM + 1) for 271 tumor samples profiled by RNA-seq for the entire transcriptome.

  Dataset EGAD00001006927

• Parallel Detections of Somatic Gene Mutations in Surgically Resected Tumor tissues and Matched Plasma Specimens in Early-Stages of Primary Breast Cancer

  We developed two panel successively, contain 68 and 136 genes respectively. Combination with ultrasound or mammography, it could be used for breast cancer early detection and avoided unnecessary surgery or other invasive detection.

  Study EGAS00001003075

• Phenotype and Genotype determination of 400 individuals from Northern Germany

  Phenotype determination by SNP-Typing using PCR and snapshotPCR with subsequent fragment analysis. We investigated 400 individuals from Northern Germany and detected up to 12 different SNPs to determine eye, hair and skin colour. More than 1000 different runs on a ABI3130 were performedThis dataset includes:- Phenotype information for 400 samples- Summary and complete genotype calls for 12 SNPs on 400 samples.

  Dataset EGAD00001001315

• Machine learning guided signal enrichment for ultrasensitive plasma tumor burden monitoring

  Development of a novel machine learning guided ctDNA detection platform for use in liquid biopsy detection and therapeutic monitoring of solid tumors in several clinical contexts. Included are WGS alignments from our study.

  Study EGAS00001007306

• Mapping of runs back to samples for snRNASeq data

  Mapping of runs back to samples for PDN, PDO and TIS snRNASeq data. 4 sets of matched PDN, PDO and TIS samples (12 unique samples total) underwent pooled snRNASeq (Parse Biosciences). 2 sublibraries were created from this and sequenced at separate times

  Dataset EGAD00001015609

• Therapeutic vulnerabilities in the DNA damage response for the treatment of ATRX mutant neuroblastoma

  Whole genome sequencing of ATRX / TP53 knockdown clones of the neuroblastoma cell line SK-N-SH

  Study EGAS00001004550

• ESGI - Whole Genome Sequencing of NSPHS samples (2019-08-19)

  Whole genome sequencing of sampels from the NSPHS cohort. The samples are sequenced using the Illumina HiSeq X Ten system. . This dataset contains all the data available for this study on 2019-08-19.

  Dataset EGAD00001005267

• DAC Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders

  Data access committee for Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders

  Dac EGAC50000000527

• Genomic characterization of metastatic breast cancers

  This dataset contains all the .bam files used for the study.

  Dataset EGAD00001004772

• Yemen_Somali.Omni5

  The individuals were assayed for genome-wide SNP genotypes using the Illumina Human Omni5 Bead Chip (Illumina), which surveys 4,284,426 single nucleotide markers regularly spaced across the genome

  Dataset EGAD00010001651

• Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation

  Presurgical studies allow study of the relationship between mutations and response of estrogen receptor positive (ER+) breast cancer to aromatase inhibitors (AIs) but have been limited to small biopsies. Here in Phase I of this study, we perform exome sequencing on baseline, surgical core-cuts and blood from 60 patients (40 AI treated, 20 Controls). In poor responders (based on Ki67 change) we find significantly more somatic mutations than good responders. Subclones exclusive to baseline or surgical cores   occur in approximately 30% of tumours. In Phase II we combine targeted sequencing on another 28 treated patients with Phase I. We find six genes frequently mutated: PIK3CA, TP53, CDH1, MLL3, ABCA13 and FLG with 71% concordance between paired cores. TP53 mutations are associated with poor response. We conclude that multiple biopsies are essential for confident mutational profiling of ER+ breast cancer and TP53 mutations are associated with resistance to oestrogen deprivation therapy.

  Dataset EGAD00001002651

• GELATO clinical trial RNA-Seq data (metastatic lesions)

  RNA-Seq data of 46 matched lobular breast cancer metastatic samples obtained from 21 unique patients from GELATO clinical trial assayed at three timepoints: at baseline (directly after patient randomization), pre-atezolizumab (after induction treatment with carboplatin for two weeks) and on atezolizumab (after two cycles of atezolizumab combined with carboplatin). The included raw transcriptome sequencing data in fastq format was generated using Illumina NovaSeq 6000 from fresh frozen material.

  Dataset EGAD00001009834

• ATAC-Seq/Hi-C/4C-Seq dataset for Malignant rhabdoid study

  Study describing the dynamics of chromatin organization within malignant rhabdoid tumors. This study describes how this chromatin organization changes upon SMARCB1 rescue within patient-derived organoid models from malignant rhabdoid tumors. Identification of a novel super-enhancer of MYC and identification of patient-specific enhancer utilization to activate MYC expression in these tumors.

  Dataset EGAD00001011820

• Diverse Cellular Composition in Alveolar Rhabdomyosarcoma Revealed by Single Cell RNA Sequencing

  Using single cell RNAseq data to characterize tumor composition and cellular states for Alveolar Rhabdomyosarcoma. We find that that ARMS tumors harbor phenotypically and transcriptionally distinct malignant subpopulations within an immune-influenced microenvironment.

  Study EGAS50000001564

• Sensitive urothelial cancer detection via high volume urine DNA analysis

  We developed a high volume (100 mL) urine DNA collection kit and laboratory platform (UroScout) analyzing 25 commonly mutated UC genes and 8 copy number-altered loci for urine tumor DNA (utDNA) alterations. To assess accuracy of UC detection, we analyzed 498 urine samples from diagnostic and surveillance timepoints from 193 UC patients and 88 cancer-negative patients evaluated for UC.

  Dataset EGAD50000000891

• Whole-exome analysis of corticotropin-independent Cushing's syndrome

  We performed WES for 8 cases with corticotropin-independent Cushing’s syndrome, in whom paired tumor and normal DNA was obtained from fresh frozen adenomas and either normal adrenal tissues or peripheral blood, respectively.

  Study EGAS00001000661

• Prospective high-throughput genome profiling in advanced cancers:

  Genomics-based tumor profiling in advanced cancers (aC) was recently demonstrated as feasible in clinical practice. After the prospective pilot PANDORA study done on advanced breast cancers, we conducted a prospective monocenter clinical trial called PERMED01 to evaluate the number patients with locally advanced or metastatic cancer for whom identification of molecular alterations in tumor samples could lead to the delivery of a targeted therapy

  Study EGAS00001004554