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• Thymic epithelial transplantation for complete DiGeorge syndrome Spatial (2025-07-28)

  Spatial transcriptomics study of thymic transplant biopsies . This dataset contains all the data available for this study on 2025-07-28.

  Dataset EGAD00001015659

• WGS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  WGS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015800

• WXS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  WXS files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015801

• RNASeq files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  RNASeq files for paper titled "Patient-derived pediatric brain tumor organoids faithfully recapitulate primary tumors"

  Dataset EGAD00001015802

• Remaining WGS files for Klco RPAML data

  Remaining WGS files for study titled "Genomics of pediatric myeloid neoplasms"

  Dataset EGAD00001008446

• McGill EMC Release 4 in tissue "venous blood" for cell type "eosinophil"

  McGill EMC Release 4 in tissue "venous blood" for cell type "eosinophil"

  Dataset EGAD00001001281

• Maternal Plasma RNA Sequencing for Genomewide Transcriptomic Profiling and Identification of Pregnancy-Associated Transcripts

  Maternal Plasma RNA Sequencing for Genomewide Transcriptomic Profiling and Identification of Pregnancy-Associated Transcripts

  Dataset EGAD00001001609

• A benchmarking resource for NGS testing of cancer predisposition genes

  A benchmarking resource of 639 individuals, to assess the analytical sensitivity of cancer predisposition gene (CPG) testing.The dataset includes sequencing data generated using the TruSight Cancer Panel (TSCP) a targeted NGS assay for analysis of CPGs and orthogonally generated data supporting at least one pathogenic variant in a CPG for a total of 645 pathogenic CPG variants.The set of pathogenic CPG variants includes strong representation of some of the most challenging types of pathogenic variants, with 339 indels, including 16 complex indels and 24 insertions or deletions with length greater than 5bp, and 74 exon CNVs, including 23 single exon CNVs. There are 502 pathogenic variants in BRCA1 or BRCA2, making this an important first-line validation dataset for laboratories performing NGS testing of BRCA1 and BRCA2.

  Study EGAS00001002993

• Exome sequencing of patient samples from study

  Exome sequencing data from FFPE preserved patient samples and patient-derived cultures. The goal of the study is to validate patient-derived cultures. Additional goal is to understand the relationship between omics and drug response.

  Study EGAS50000000171

• Whole transcriptome seq from patient samples

  Exome sequencing data from FFPE preserved patient samples and patient-derived cultures. The goal of the study is to validate patient-derived cultures. Additional goal is to understand the relationship between omics and drug response.

  Study EGAS50000000172