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• BLUEPRINT September 2016, ChIPmentation Acute Lymphocytic Leukemia for precursor B cell from bone marrow, on Genome GRCh38

  ChIPmentation data for 7 sample(s) Acute Lymphocytic Leukemia for precursor B cell from bone marrow, on Genome GRCh38. 13 run(s), 13 experiment(s), 13 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002928

• BLUEPRINT September 2016, ChIPmentation for memory B cell from venous blood, on Genome GRCh38

  ChIPmentation data for 2 sample(s) for memory B cell from venous blood, on Genome GRCh38. 6 run(s), 4 experiment(s), 4 alignment(s). Part of BLUEPRINT (September 2016).

  Dataset EGAD00001002923

• Contribution of Retrotransposition to Developmental Disorders

  Variants and WGS data for Gardner et al. 2018 (biorxiv 471375). One VCF each for Alu, L1, and SVA. Flat text file and WGS for processed pseudogenes.

  Dataset EGAD00001004586

• Host factors dictate gut microbiome alterations in chronic kidney disease more strongly than to kidney function

  Despite recent progress, microbial markers in Chronic Kidney Disease (CKD) remain inconclusive. We combined quantitative faecal metagenomics (N=130 CKD cohort) and cross-study biomarker comparisons (Ntotal=4420) to study microbiome associations with glomerular filtration rate (eGFR; kidney function) and 4-year CKD progression. Transit time (TT) and medications primarily explained microbiome variation, trumping eGFR-related effects. Metagenome analysis showed increased p-cresol and indole synthesis potential and decreased plant-to-animal CAZyme ratios with lower eGFR, coupled to a Bact1 to Rum enterotype shift, suggesting saccharolytic-to-proteolytic microbiome transitions linked to dietary guidelines and slowed-down TT. Peritoneal dialysis patients showed increased (dysbiotic) Bact2 prevalence and linked intestinal inflammation. Only Escherichia coli, an unnamed Alistipes species and Bifidobacterium adolescentis were confounder-independent markers for eGFR, but these nor previous markers convincingly replicated across 11 studies. No predictors for CKD progression were found. Together, poor evidence for microbiome biomarkers but substantial eGFR-independent effects were found, suggesting potential for nutritional and TT interventions in CKD.

  Study EGAS50000000646

• WTCCC2 Pharmacogenomic Response to Statins study

  A WTCCC2 project genome-wide study for pharmacogenomic response to statins (PR) in individuals from Scotland.

  Study EGAS00000000121

• ONT and PacBio data of 22q11 patient-parent duos/trios

  ONT and PacBio FASTQ files generated for de novo assembly and resulting de novo assemblies

  Study EGAS50000001647

• small RNA sequencing for 6 patients

  small RNA sequencing data for 3 patients with type 2D diabetes, and 3 patients with non diabetes. Single end sequencing was performed with read length of 100.

  Dataset EGAD50000001259

• WES data for Heterogeneity of IKZF1 genomic alterations and risk of relapse in childhood BALL

  Whole exome sequencing data for 425 samples with B-cell acute lymphoblastic leukemia

  Dataset EGAD50000000150

• Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

  Sequence reads for pediatric GBM samples for manuscript: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

  Dataset EGAD00001000134

• Sequencing data for Australian Ovarian Cancer study submitted 20121116

  Sequencing data for Australian Ovarian Cancer study submitted 20121116

  Dataset EGAD00001000293