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• Genetics causes of male infertility in 185 patient-parent trios from Netherlands and UK

  The dataset is composed by the raw and processed sequencing data generated from 185 Patients affected by azoospermia or severe oligozoospermia recruited from the Netherlands and the UK.

  Dataset EGAD00001007862

• DAC for Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

  Dac EGAC00001000419

• Functional Genomics Laboratory, Kolling Institute of Medical Research DAC - TP53 mutation data in ovarian cancer

  Dac EGAC00001000589

• DAC: Antisense long non-coding RNAs are deregulated in skin tissue of patients with systemic sclerosis

  Dac EGAC00001000788

• scRNA-seq reveals alterations of multiple alveolar macrophage states in chronic obstructive pulmonary disease

  Dac EGAC00001001547

• DAC Molecular heterogeneity and commonalities in pancreatic cancer precursors with gastric and intestinal phenotype

  Dac EGAC00001002978

• NPY methylated ctDNA is a promising biomarker for treatment response monitoring in metastatic colorectal cancer

  Dac EGAC00001003001

• RHD_NC_HC24_Controls

  Healthy volunteers recruited in New Caledonia

  Dataset EGAD00010000954

• Microbiome confounders and quantitative profiling challenge established microbial targets in colorectal cancer developmental stages

  Study EGAS00001007413

• Activation of IL7RA signalling in human B-lymphoid precursors induces pre-leukemia

  Study EGAS00001003979

• Extreme intratumor heterogeneity and driver evolution in mismatch repair deficient gastro-esophageal cancer

  Study EGAS00001003434

• PBMC gene expression profiles in diet treated celiac disease upon oral gluten challenge

  Study EGAS00001004860

• Inherited CD28 deficiency in otherwise healthy patients with disseminated warts and giant horns

  Study EGAS00001004837

• CRISPR-based adenine editors correct nonsense mutations in a cystic fibrosis organoid biobank.

  Study EGAS00001003951

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• miRNA regulation of monocyte expressed inflammatory genes in patients with inflammatory bowel disease

  Study EGAS00001006157

• Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells

  Study EGAS00001007026

• Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

  Study EGAS00001007423

• Induction Failure in Childhood and Young Adult T-cell Acute Lymphoblastic Leukemia

  Study EGAS00001006411

• Accessibility Over Transposable Elements Reveals Genetic Determinants of Stemness Properties in Normal and Leukemic Hematopoiesis

  Study EGAS00001007191

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005818

• Genome sequencing in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome

  Study EGAS00001006371

• Möebius

  Exome sequencing in 3 Möbius patients

  Dataset EGAD00001001385

• Genome and transcriptome sequencing of cancer of unknown primary tumours

  Genome and transcriptome sequencing of cancer of unknown primary tumours was used to determine yield of clinical biomarkers for a molecular guided trial or for resolving cancer type of origin. This study includes profiling of germline DNA and tumour DNA by whole genome sequencing of tissue and cfDNA biopsies, as well as targeted genome sequencing using two panels, including Comprehensive cancer panel (CCP) and TruSight Oncology 500 (TSO500). This study also includes profiling of tumour RNA by whole transcriptome sequencing.

  Study EGAS50000000452

• Transcriptome sequencing of fibroblast-dependent alveolar organoids derived from patient-specific iPS cells with SFTPC^Y104H variant and their gene-corrected (monoallelic wild type SFTPC) ones.

  A disease-specific iPS cell line derived from a pulmonary fibrosis patient with SFTPC^Y104H and its gene-corrected (monoallelic wild type SFTPC) one were established. Then lung progenitor cells were differentiated from each cell line and co-cultured with human fetal lung fibroblasts to generate alveolar organoids, respectively. Alveolar epithelial cells and fibroblasts were isolated by fluorescence-activated cell sorting and each RNA was extracted. We performed transcriptome analysis of those samples by RNA-sequencing.

  Study JGAS000617