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• Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers

  This project includes RNA-sequencing data from human FSHD and control skeletal muscle biopsies. This project includes data from 28 FSHD patients (total 37 samples, including vastus lateralis and tibialis anterior muscles) and 12 control individuals (total 24 samples, including vastus lateralis and tibialis anterior muscles).

  Study EGAS00001005782

• Integrative Profiling of T790M Negative EGFR Mutated NSCLC Reveals Pervasive Lineage Transition and Therapeutic Opportunities

  We performed whole exome and transcriptome analysis of 59 first- and second-generation EGFR TKI resistant metastatic EGFR mutated patients to characterize and compare molecular alterations mediating resistance in T790M positive and negative disease. Transcriptomic analysis revealed ubiquitous loss of adenocarcinoma lineage gene expression in T790M negative tumors, orthogonally validated using multiplex immunohistochemistry. There was enrichment of genomic features such as TP53 alterations, 3q chromosomal amplifications, whole genome doubling and non-aging mutational signatures in T790M negative tumors. Almost half of resistant tumors were further classified as Immunehot, with clinical outcomes conditional on immune cell infiltration state and T790M status. Finally, using a Bayesian statistical approach, we explored how T790M negative and positive disease might be predicted using comprehensive genomic and transcriptomic profiles of treatment-naïve patients.

  Study EGAS00001005389

• Visium CytAssist Spatial Gene Expression analysis for FFPE glioblastoma samples

  This study used spatial transcriptomics to investigate gene expression patterns in FFPE glioblastoma tumor samples from four patients.

  Study EGAS50000001242

• Immunochip_genotypes

  Intensity files for Immunochip genotypes from blood

  Dataset EGAD00010001495

• 4C-seq data

  4C-seq data was generated for regions of interest to confirm enhancer-gene promoter interactions

  Dataset EGAD00001001847

• Whole transcriptome sequencing datasets for Low-grade Serous Ovarian Carcinoma

  This dataset includes whole transcriptome sequencing reads from 8 cell lines based on TruSeq stranded mRNA kit (Illumina). They are all 2*75bp reads sequenced using Illumina NextSeq500.

  Dataset EGAD00001006441

• HCV infected liver biopsy RNASeq from Boson clinical trial

  Bulk RNAseq from HCV infected liver biopsies. Two fastq files per sample for Paired end sequecing. Some samples were sequenced on multiple plates.

  Dataset EGAD00001006911

• Integrated Genomic and Transcriptomic Analysis of Small Cell Lung Cancer Reveals Inter- and Intratumoral Heterogeneity and a Novel Chemotherapy-Refractory Subtype

  We integrated histology, transcriptome, exome, and treatment outcomes of small cell neuroendocrine cancer (SCNC) from a range of metastatic sites, revealing complex intra- and intertumoral heterogeneity of neuroendocrine (NE) differentiation and transcriptomic subtypes (ASCL1, NEUROD1, POU2F3, YAP1 and ATOH1). High NE SCNCs were more likely to benefit from replication stress-targeted therapies, in contrast to non-NE tumors which were more likely to respond to immune response-targeted therapies.

  Study phs002541

• analysis of T cell receptor repertoirs

  Full information about the T cell receptor (CR) variable regions found in the sequences of the vdj region. Columns: barcode is_cell contig_id high_confidence length chain v_gene d_gene j_gene c_gene full_length productive cdr3 cdr3_nt reads umis raw_clonotype_id raw_consensus_id

  Dataset EGAD00001008109

• LBC1921 bam files

  297 members of the LBC1921 were sequenced using the Illumina HiSeq X platform. This dataset contains the bam files.

  Dataset EGAD00001011667

• NABEC: North American Brain Expression Consortium

  This study utilized neurologically normal control samples deposited in North American Brain Expression Consortium (NABEC). This top-level study, phs001300, makes available all phenotype data of the NABEC study participants.In addition, molecular data from the substudies, listed above, are available.

  Study phs001300

• A first step towards clinical routine long-read sequencing in Sweden, a national pilot study on chromosomal rearrangements

  PacBio HiFi Revio WGS data from 16 individuals sequenced in the Genomic Medicine Sweden (GMS) Long read project. Each individual was sequenced on one PacBio Revio SMRT cell. The DNA was extracted from blood. The HiFi data was aligned to GRCh38 using minimap2 or the SMRT-link software.

  Dataset EGAD50000000676

• A brain precursor atlas reveals the acquisition of developmental-like states in adult cerebral tumours

  We generated a single-cell RNA-seq atlas capturing over 100,000 cells spanning all stages of the mouse cerebral development. By examining data from over 100 cerebral tumour samples, our study reveals that, despite the phenotypic/genotypic differences between the tumour types, they are all comprised of developmental sublineages that map most closely to embryonic or juvenile stages of development.

  Dataset EGAD00001008746

• The Dutch retinoblastoma research team from the VU University medical center

  Dac EGAC00001000431

• Cancer and germline exomes, and cancer RNA-seq consisiting of FASTQ paired-end reads from melanoma and lung cancer samples

  Cancer and germline exomes, and cancer RNA-seq consisiting of FASTQ paired-end reads from melanoma and lung cancer samples

  Dataset EGAD00001005097

• Deciphering RBP - alternative splicing networks in ALS iPSC-MN: patient and control datasets

  We produce RNA-seq datasets of iPSC-derived motor neurons (iPSC-MN) from healthy controls and sporadic ALS patients and controls and familial ALS patients with pathogenic variants in TARDBP.

  Study EGAS00001005879

• Colorectal cancer genomics with primary and metastatic samples

  We performed whole genome sequencing of metastatic colorectal cancer from 16 patients. Normal adjacent tissue, primary tissue, and metastatic tissue were analyzed to uncover metastatic progression and difference between primary and distant metastatic lesions.

  Study EGAS00001006465

• Colorectal cancer transcriptomics with primary and metastatic samples

  We performed RNAseq analysis of metastatic colorectal cancer from 16 patients. Normal adjacent tissue, primary tissue, and metastatic tissue were analyzed to uncover metastatic progression and difference between primary and distant metastatic lesions.

  Study EGAS00001006464

• RNA-seq analysis of human primary keratinocytes and skin

  Bulk and single cell RNA-seq analysis of human keratinocyte and human skin

  Study EGAS00001002981

• Paired diagnostic and relapse medulloblastoma sequencing

  Whole exome and targeted panel sequencing in a cohort of paired diagnostic and relapse medulloblastoma samples.

  Study EGAS00001007120

• Transcriptomic characterization of the histopathological growth patterns in breast cancer liver metastases

  Characterizing transcriptommic profiles of the two main histopathological growth patterns in liver metastases in patients with breast cancer.

  Study EGAS50000000225

• LBC1936 bam files

  1075 members of the LBC1936 were sequenced using the Illumina HiSeq X platform. This dataset contains the bam files.

  Dataset EGAD50000001740

• GCAT| WGS Structural Variants Catalog V1

  This resource contains the SV annotations using the AnnotSV tool. The description of annotations can be found in AnnotSV web page https://lbgi.fr/AnnotSV/ or GCAT-BSC web page: http://cg.bsc.es/GCAT_BSC_iberianpanel

  Dataset EGAD00010002152

• MCL Multiome

  This dataset contains the raw sequencing data (Runs) from the 10x Genomics single-cell Multiome Experiments which belong to the MCL group

  Dataset EGAD00001009819

• Genomic insights into the population history of the Resande or Swedish Travellers

  Study EGAS00001006176