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• Bottleneck Sequencing Of Human Tissue (Wgs) (2020-10-20)

  Bottleneck sequencing of human tissue including neurons, cord blood, sperm. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ . This dataset contains all the data available for this study on 2020-10-20.

  Dataset EGAD00001006459

• ATAC-seq of metastatic prostate tumors

  This dataset includes Assay for Transposase-Accessible Chromatin using sequencing (ATAC-seq) data, in FASTQ format, from 70 metastatic castration-resistant prostate cancer tumor samples from the SU2C/PCF West Coast Dream Team (WCDT) project. The sequencing data is paired-end, 150 bp sequencing data from an Illumina NovaSeq 6000 machine. ATAC-seq libraries were prepared following the protocol described in Buenrostro et al. Nature Methods. 2013 (PMID: 24097267) and Corces et al. Nature Methods. 2017 (PMID: 28846090).

  Dataset EGAD00001009654

• Epigenetic dysregulation in autism spectrum disorder

  Autism spectrum disorder (ASD) is a collection of neuro-developmental disorders characterized by deficits in social interaction and social communication, along with restricted and repetitive behaviour patterns. we globally interrogated the histone acetylomes of enhancers in a large cohort of ASD and control samples by analyzing tissue from three brain regions postmortem: prefrontal cortex (PFC), temporal cortex (TC) and cerebellum (CB). H3K27ac was selected as the representative acetylation mark and 288 ChIP-seq were performed on these postmortem samples.

  Dataset EGAD00001002725

• Clonality of circulating tumor cells in breast cancer brain metastases patients

  The incidence of brain metastases in breast cancer (BCBM) patients is increasing. These patients have a very poor prognosis and therefore identification of blood-based biomarkers, such as circulating tumor cells (CTCs) and understanding the genomic heterogeneity could help to personalize treatment options. In this study, DNA from individual CTCs as well as corresponding primary tumors and brain metastases were analyzed by next generation sequencing (NGS) in order to evaluate copy number aberrations and single nucleotide variations (SNVs).

  Dataset EGAD00001005020

• Melanoma post mortem analysis

  Despite multiple large-scale sequencing studies offering substantial insight into the genomic landscape of cutaneous melanoma, the molecular events surrounding disease progression and the resulting molecular heterogeneity between metastases have not been fully elucidated. We have been applying whole genome and transcriptome sequencing across metastases collected during post mortem. Herein we show the findings for the first such patient. This is a targeted pulldown validation in support of the whole-genome sequencing analysis of the metastatic tumours and targeted pulldown of the primary tumour.

  Dataset EGAD00001005073

• Fusion gene analysis using multiplex single primer extension-based RNA-sequencing

  The whole study comprises of two patient cohorts. Screening cohort: 40 patients of Germany; validation cohort: 40 patients from Asia. Further, bile duct and CCA cell lines have been analyzed. This dataset contains fusion gene analysis using multiplex single primer extension-based RNA-sequencing for a subset of 25 patients of the screening cohort. Data was generated on Illumina NexSeq 550 device in paired-end mode and is stored in compressed FASTQ file format.

  Dataset EGAD00001011326

• WGS data from LCNEC patient derived tumor organoids (PDTOs) and matched parental tumors - SA

  The dataset includes cram files from WGS of 2 LCNEC tumors and matched PDTOs. For all tumors, cram files from WGS of matched normal tissue derived organoids from the corresponding patients is included. Analysis VCF files are also included in the dataset. The sequencing was done with a NovaSeq 6000 instrument.

  Dataset EGAD00001009990

• RNAseq Iron-Treated iPSC-derived Microglia

  Iron accumulation in microglia has been observed in Alzheimer’s disease and other neurodegenerative disorders and is thought to contribute to disease progression through various mechanisms including neuroinflammation. To study the interaction between iron accumulation and inflammation, we treated human induced pluripotent stem cell-derived microglia (iPSC-MG) with an increasing concentration of iron, in combination with inflammatory stimuli such as interferon gamma and amyloid β, and performed RNA sequencing.

  Dataset EGAD00001008660

• XP patients NGS data collection from Gustave Roussy.

  This dataset is composed of NGS data from 33 XP patients studied by WGS.

  Dataset EGAD00001009693

• Whole genome sequencing of a Grem1 mutant human tumour

  The BMP antagonist Grem1 has been shown to be associated with a rare human polyposis syndrome (HMPS). We have shown that there is a 40KB duplication on chrom 15 found in some patients with HMPS. Traditional serrated adenomas (rare sporadic polyps) share some morphological features with HMPS polyps and it has long been hypothesised that they are the sporadic version of HMPS polyps. We have obtained of one of these lesions and in this project we aim to characterise this tumour.

  Dataset EGAD00001002182