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• The Xq22.3 contiguous gene deletion syndrome (ATS-ID): from genotype to further delineation of the phenotype

  Dac EGAC00001002153

• HCA_Heart_Adult_Wellcome_spatial

  Spatial transcriptome analysis of the human heart

  Study EGAS00001007848

• Whole genome sequencing of single cells identifies stochastic aneuploidies, genome replication, states, and clonal repertoires for library A96213A

  Transposase-based amplification-free single-cell genome direct library preparation in nanowell chips; 522 samples; filetype=bam

  Dataset EGAD00001004771

• EGAD00010000730

  WTCCC2 Psychosis Endophenotype samples from UK, Germany, Holland, Spain and Australia using the Affymetrix 6.0 array

  Dataset EGAD00010000730

• RNA-sequencing of primary urothelial bladder cancer samples

  Paired-end RNA-sequencing of tumour tissue samples (n=85) from primary urothelial bladder cancer patients. Sequencing was performed using either HiSeq (n=27) or NextSeq (n=58) Illumina platforms. Of the 85 samples, 78 are Non-muscle invasive (NMIBC) and 7 are Muscle invasive (MIBC).

  Dataset EGAD00001007005

• Mutational spectrum of highly differentiated, fusion-negative rhabdomyosarcoma (set 1).

  Pediatric PAX-FOXO1 fusion-negative rhabdomyosarcoma represents a diverse spectrum of tumors. In this study, the mutational spectrum of 22 fusion-negative rhabdomyosarcomas with high, rhabdomyoma-like levels of differentiation was evaluated using OncoPanel v.2 (OPv2), an Agilent SureSelect custom designed bait set consisting of the coding regions of 504 cancer-relevant genes. Corresponding normal tissue was not available. Discarded normal human skeletal muscle, obtained from 7 donors without tumor history, were also included in the sequencing run.

  Study EGAS00001002630

• Targeted sequencing of brain expressed miRNA genes

  As regulators of gene expression, microRNAs (miRNAs) are likely to play an important role in the development of disease. In this study we present a large-scale strategy to identify miRNAs with a role in the regulation of neuronal processes by screening 289 brain expressed miRNAs. Thereby we found variant rs7861254 located near the MIR204 gene to be significantly associated with schizophrenia. This variant resulted in reduced expression of miR-204 in neuronal-like SH-SY5Y cells.

  Study EGAS00001001607

• Mutational spectrum of highly differentiated, fusion-negative rhabdomyosarcoma (set 2).

  Pediatric PAX-FOXO1 fusion-negative rhabdomyosarcoma represents a diverse spectrum of tumors. In this study, the mutational spectrum of 22 fusion-negative rhabdomyosarcomas with high, rhabdomyoma-like levels of differentiation was evaluated using OncoPanel v.2 (OPv2), an Agilent SureSelect custom designed bait set consisting of the coding regions of 504 cancer-relevant genes. Corresponding normal tissue was not available. Discarded normal human skeletal muscle, obtained from 7 donors without tumor history, were also included in the sequencing run.

  Study EGAS00001002771

• Orolova hIPSC data access policy

  DAC associated with the hiPSC cell lines generated by the Orlova lab.

  Dac EGAC50000000744

• Hepatocellular carcinoma xenografts established from needle biopsies preserve the characteristics of the originating tumors

  Study EGAS00001003396