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• USA-Immuno

  USA Multiple Sclerosis cases and controls

  Dataset EGAD00010002043

• yemcha-U-2

  Yemen and Chad Genotyping

  Dataset EGAD00010001867

• REL-2017-07-2013

  HipSci - Bleeding and Platelet Disorders - Genotyping Array - July 2017

  Dataset EGAD00010001360

• MacTel_cohort_Omni5_genotypes

  MacTel Projet consortium case and control genotypes from Ilumina Omni5 chip

  Dataset EGAD00010001204

• Clinical and genetic analysis of a rare syndrome associated with neoteny

  Dataset EGAD00001003593

• Whole-exome and low-coverage whole genome sequencing data

  Dataset EGAD00001001391

• Whole-Genome Bisulfite Sequencing of a paired initial and recurrent glioma

  Dataset EGAD00001001616

• DONSON exome data

  Exome data from patients and parents with DONSON mutations

  Dataset EGAD00001003160

• Unmatched WGS from bone marrow samples of 5 chr21 amplified blast phase myeloproliferative neoplasm patients

  We describe recurrent chromothripsis of chromosome 21 in a subset of patients in blast phase of a myeloproliferative neoplasm (BP-MPN), which alongside other structural variants leads to amplification of a region of chromosome 21 in ~25% of patients (‘chr21amp’). Chr21amp BP-MPN has a particularly aggressive and treatment-resistant phenotype. Here we provide high-depth whole genome sequencing (WGS) in five chr21amp BP-MPN cases, to a median coverage of 81x [range 77-86] and purity 79% [range 58-88%].

  Dataset EGAD00001011280

• Whole exome sequencing of patients with esophageal squamous cell carcinoma receiving chemoradiotherapy

  We performed multi-region whole exome sequencing (WES) of pre-treatment and recurrent esophageal cancer receiving chemoradiotherapy in order to characterize clonal evolution of treatment resistant clones. Furthermore, additional solitary pre-treatment tumor samples were subjected to WES to detect biomarkers predicting clinical outcome.

  Study JGAS000227