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• GCAT| WGS FASTQ V1

  This dataset include FASTQ files of 808 samples from GCAT cohort. Technology used HiSeq 4000, read length 150 bp, inner mate distance 300 bp. For each sample the paired -ends are generated in separated files. Each FASTQ is splitted in multiple LANEs and grouped by the Multiplex index.

  Dataset EGAD00001008201

• Metastatic Adrenocortical Carcinoma Displays Higher Mutation Rate and Tumor Heterogeneity than Primary Tumors

  We have analyzed 33 human metastatic adrenocortical tumors from 14 patients with advanced metastases and performed whole exome sequencing to identify novel signatures in these tumors. We observed tumor heterogeneity in these tumors coming from the same metastatic tissue site across different patients while the different metastatic tumor sites coming from the same patient are more homogenous in nature.

  Study phs001658

• ImmunAID Data Access Committee

  The ImmunAID Data Access Committee (DAC) oversees controlled access to cohort data and samples generated within the project. Access requests must be submitted via a standardized form and are reviewed by a Steering Committee (SC), with potential input from the External Advisory Board (EAB). Requests must include detailed scientific, ethical, and regulatory information, including data protection measures in accordance with the GDPR and French legislation. The SC evaluates proposals based on scientific merit, methodological rigor, ethical considerations, and the availability of cohort resources. Decisions are communicated within 8 weeks. Opinions can be favorable, conditional (requiring modifications), or unfavorable (with one resubmission allowed). Only academic, industrial, or project-affiliated research teams are eligible to apply.

  Dac EGAC50000000654

• Circulating RNAs prior to endometrial cancer diagnosis

  We analyzed circulating RNA levels using small RNA sequencing, targeting RNA in the size range 17 to 47 nucleotides, in samples collected prior to endometrial cancer diagnosis compared to cancer-free controls. The analysis included 316 cases with samples collected 1-11 years prior to diagnosis , and 316 matched controls, both from the Janus Serum Bank Cohort in Norway.

  Study EGAS50000000267

• Melanoma_multi_site_metastases

  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 as well as to multi-site metastases during treatment

  Study EGAS00001001348

• Lothian Birth Cohort 1921 whole genome sequencing study

  297 members of the Lothian Birth Cohort 1921 (LBC1921) were sequenced using the Illumina HiSeq X platform. The LBC1921 are a relatively healthy cohort of 550 individuals who underwent cognitive and medical testing at a mean age of 79.1 (SD=0.6) years. They have since undergone four further waves of testing, approximately three years apart.

  Study EGAS00001003818

• Lothian Birth Cohort 1936 whole genome sequencing study

  1075 members of the Lothian Birth Cohort 1936 (LBC1936) were sequenced using the Illumina HiSeq X platform. The LBC1936 are a relatively healthy cohort of 1091 individuals who underwent cognitive and medical testing at a mean age of 69.5 (SD=0.8) years. They have since undergone four further waves of testing, approximately three years apart.

  Study EGAS00001003819

• LCM_WES__Thyroid_

  Whole exome sequencing through the low-input DNA pipeline in thyroid samples. Tissue will be processed either from laser capture microdissection or directly from bulk frozen/fixed/paraffin-embedded tissue. Insights will be gained here directly from the sequencing but also from using the data as a matched normal in Exome Nanoseq. Thyroid samples will be obtained from patients with and without thyroid disease.

  Study EGAS00001007772

• 65 prostate cancer cases WGS and transcriptome sequencing project

  We obtained whole-genome and transcriptome sequencing of tumor-benign pairs from 65 Asian prostate cancer (PCa) patients. Taken together with the TCGA PCa cohort, our integration analysis provides the first comprehensive mutational landscape of PCas across major ethnics worldwide and reveals potential novel role of frequent altered chromatin remodeler genes in PCas without androgen receptor (AR) alteration and complex rearrangements derived from Chromoplexy. In addition, we identified 5 putative tumor suppressor genes (TSGs) chains including one on chromosome 13q with novel findings of PCDH9 (deletions in 15/65 tumors) which was implicated in aggressive progression of prostate cancer. Finally, the integrative pathway and co-expression network analysis followed by the functional study indicated the frequent altered genes, particularly focal amplifications of PLXNA1 (11/65), in semaphoring signaling of axon guidance pathway may interact with PI3K/AKT and AR signaling and also contribute to the aggressiveness and progression of prostate cancer.

  Study EGAS00001000888

• Mechanisms of Restoring T Cell Immunity after Cure of Chronic Viral Infection

  We analyzed hepatitis C virus (HCV)-specific T cells and non-specific memory T cell populations from 6 patients with chronic HCV infection receiving 12 weeks of direct-acting antiviral (DAA) therapy with aritaprevir/ritonavir/ombitasvir + dasabuvir + ribavirin. All patients were treated successfully. Peripheral blood mononuclear cells were obtained from blood draws right before treatment initiation (Pre-DAA) and 12 months after the end of treatment (Post-DAA). In each patient, HCV-specific cells were sorted using two different HCV multimers: One representing an epitope present in the circulating HCV genome and one epitope where the virus had escaped the T cell response and thus the corresponding T cells did not receive a TCR signal in vivo. Sorted specific T-cell populations and memory T cell subpopulations were analyzed by extracting RNA and performing RNA sequencing using the Smart-Seq2 protocol. A group of 8 patients with acute self-limited HCV infection (resolvers) were included as control representing natural control of infection. These patients were studied 24 weeks after their last detectable HCV viremia. Finally, we confirmed the data from chronically treated patients in a confirmatory cohort, consisting of 9 patients after successful antiviral treatment.

  Study phs002510