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• Indonesian RNA-seq data

  Transcription data were collected to study patterns of functional variation across the broad geography of Indonesia. The region has extremely diverse populations, with very different demographic histories and multiple genetic ancestries. This dataset reports high-throughput RNA-sequencing data for individuals from three islands spanning this geographical region: Mentawai, Sumba and West Papua.

  Study EGAS00001003671

• Clonal expansion of mutated cell population in bladder urothelium (2018-08-03)

  1cm biospies of from patients undergoing bladder cystectomy will be collected. The underlying muscle and stroma will be removed and the remaining epithelia dissected into small sequential areas which will be sent for ultra-deep exome sequencing using a panel of known cancer and viral genes. Sequence analysis using similar methods to Martincorena I et al (Science 2015, 348:880) will provide an idea of the somatic mutational landscape in these patient samples. Individual patient muscle samples will also be sequenced as a reference. . This dataset contains all the data available for this study on 2018-08-03.

  Dataset EGAD00001004274

• Elucidating the heterogeneity of immunotherapy response and immune-related toxicities by longitudinal ctDNA and immune cell compartment tracking in lung cancer

  The dataset for the study Elucidating the heterogeneity of immunotherapy response and immune-related toxicities by longitudinal ctDNA and immune cell compartment tracking in lung cancer includes 207 bam files from hybrid capture targeted error-correction next-generation sequencing (TEC-Seq) from plasma cell-free DNA and matched white blood cell DNA from 30 individuals with non-small cell lung cancer, alongside 46 bam files from whole exome sequencing of tumor and matched normal DNA for 21 individuals with non-small cell lung cancer who received immunotherapy-containing regimens.

  Dataset EGAD00001011991

• DAC for the cfSort study (tissue deconvolution)

  Dac EGAC00001003222

• Data Access Committee for the CentralAfricanCMC_Pemberton dataset

  Dac EGAC00001000896

• Data Access Committee for the MPNST project

  Dac EGAC00001001987

• Annie Huang and the Hospital for Sick Children

  Dac EGAC01000000015

• Data Access Committee for the Berardi group

  Dac EGAC00001003392

• DAC for the study EGASXXX

  Dac EGAC00001002746

• Data access committee for the HOMOCULTURGEN dataset

  Dac EGAC00001003485

• DAC for the study EGAS00001007247

  Dac EGAC00001003262

• DAC_iCope

  DAC for the iCope submission

  Dac EGAC50000000696

• fibroblast transcriptome of pediatric patients with epilepsy

  RNA sequencing of fibroblasts from pediatric patients with childhood epilepsy. Fibroblast RNA was extracted at passage 3-6 using MN nucleospin, >90M 150bp paired-end reads per sample were obtained with illumina sequencing. Reads were aligned to hg38.

  Dataset EGAD50000001166

• RNA sequencing of Non-Small Cell Lung Cancer and adjacent normal tissue (ICON)

  RNA sequencing was performed on 108 NSCLC tumor samples and their paired adjacent normal tissues (n=21) to identify associations with clinical and immune characteristics.

  Dataset EGAD50000000361

• Genomic profiling of patient-derived xenografts and organoids in prostate cancer

  Dataset contains genomic sequencing of 87 samples (blood germline, normal prostate tissues, human tumors, PDOs and PDXs). Sequencing was performed by whole-exome sequencing or targeted sequencing of prostate cancer genes.

  Dataset EGAD00001006403

• Low pass whole genome sequencing of CACRC

  Genome-wide copy number profiling was performed using low-pass whole genome sequencing on archival non-dysplastic mucosa (n=9), low-grade dysplasia (LGD; n=30), high-grade dysplasia (HGD; n=13), mixed LGD/HGD (n=7) and CA-CRC (n=19).

  Dataset EGAD00001004270

• Gene expression profile of mesothelial cells from peritoneal adhesion biopsies

  RNA-sequencing analysis was carried out on mesothelial cells isolated from peritoneal adhesion biopsies and compared to control human peritoneal mesothelial cells to identify a mesothelial-to-mesenchymal transition (MMT)-related gene signature in patients.

  Dataset EGAD00001008324

• Whole exome sequencing (WES) of 95 previously untreated AML samples

  MNC were isolated from bone of 95 AML patients at initial diagnosis via Ficoll gradient. WES has been performed on all 95 samples. Paired exome sequencing was done on a NovaSeq 6000 sequencer with Twist human core exome plus kit.

  Dataset EGAD00001011125

• RNA-seq data of patients with glioblastoma IDH-wt (CNS WHO grade 4) with matched primary and relapse samples.

  Between January 1st, 2016, and December 31th, 2021, patients with glioblastoma IDH-wt (CNS WHO grade 4) were included. RNA-seq was performed in a subset of patients.

  Dataset EGAD00001015683

• Circulating Cell-free DNA Whole Genome Sequencing from Head and Neck Cancer Patients

  This dataset contains plasma-derived circulating cell-free DNA (cfDNA) whole genome sequencing (WGS) data from patients diagnosed with head and neck squamous cell carcinoma. cfDNA was extracted from plasma collected at defined clinical timepoints.

  Dataset EGAD50000001828

• CIAO Clinical Trial

  Whole exome and RNA sequencing for samples from CIAO (Checkpoint Inhibitors Assessment in Oropharynx cancer) (NCT03144778) clinical trial testing neoadjuvant anti-PD-L1 durvalumab with or without the anti-CTLA-4 tremelimumab in oropharynx cancer

  Study EGAS50000001174

• RNA-sequencing of platelets and immortalized megakaryocyte cell lines for inherited thrombocytopenia

  Total RNA-sequencing of platelets and immortalized megakaryocyte cell lines for inherited thrombocytopenia. Libraries were prepared using Illumina TruSeq Stranded Total RNA with Ribo-Zero Gold kits. The samples were paired-end sequenced using the NovaSeq 6000 platform at a depth of 60 million reads per sample with a read length of 100 base pairs.

  Dataset EGAD50000001818

• Single-sell RNA sequencing counts from 7 acute myeloid leukemia patients and 3 healthy donors

  This dataset contains count data (from 10X CellRanger) and metadata from 7 acute myeloid leukemia subjects treated with chemotherapy, as well as data from 3 healthy donors. Additionally, the dataset includes VDJ data for all subjects except for 31_base and the 3 healthy donors (TCRseq not performed).

  Dataset EGAD50000000525

• Genetic and expression landscape of Waldenstrom macroglobulinemia

  Exome analyses for the identification of somatic mutation in Waldenstrom macroglobulinemia by comparison of tumor and CD3+(germ line control) population in 16 patients. transcription profiling of a series of Waldenstrom macroglobulinemia samples

  Study EGAS00001003603

• Genetics_and_Networks_of_Congenital_Heart_Defects

  Exome sequencing of families with Congenital Heart Defects of diverse sub-phenotypes. Comprises both parent-offspring trios for sporadic cases and multiplex families. Collaboration with David Brook, University of Nottingham. Funded by the British Heart Foundation.

  Study EGAS00001000762

• Metagenome for FINRISK2002

  The dataset contains data for n=7211 FINRISK 2002 participants who underwent fecal sampling. Demultiplexed shallow shotgun metagenomic sequences were quality filtered and adapter trimmed using Atropos (Didion et al., 2017), and human filtered using Bowtie2 (Langmead and Salzberg, 2012). The files are in FASTQ format.

  Dataset EGAD00001007035

• Reconstitution of Human Brain Cell Diversity in Organoids via Four Protocols [time-course bulkRNAseq]

  Time-course bulk-RNA sequencing of brain organoids grown in four distinct growth protocols designed to generate dorsal (D) and ventral (V) forebrain, midbrain (M) and striatum (S) tissue at days 13 (for dorsal and ventral)/16 (for midbrain and striatum), 25, 40, 80 and 120. Per per cell line-protocol-timepoint combination three organoids (biological replicates) were grown. For reference, also three samples of the pluripotent stem cells across cell lines, not yet exposed to any protocol, were sequenced (day 0, pluripotent).

  Study EGAS50000000663

• Novel Approach to High-Throughput Identification and Characterization of Neoantigens

  This study focuses on the development of novel approach for the screening, identification and characterization of neoantigen-specific T-cell receptors (TCRs). The developed method consists of collecting targeted RNA-Seq from a T-cell specific gene panel via 3' end Illumina sequencing combined to Oxford Nanopore based full-length TCR sequencing post T-cell activation. The data generated during this study demonstrates feasibility of the approach on a Jurkat control cell line as well as T-cells isolated from the blood of 3 independent healthy donors.

  Study phs002372

• Mapping and phasing of structural variation in patient genomes using nanopore sequencing

  We whole genome sequence 2 patients with congenital abnormalities and known complex de novo chromosomal rearrangements using the Nanopore MinION. We show how we can detect most previoulsy detected de novo rearrangements as well as uncover a few new ones. Furthermore, we perform genome-wide analyses showing the accuracy of SV detection and of phasing, using long reads. The files uploaded here are the whole genome Nanopore data for each of the two patients used, as well as the corresponding whole genome illumina data, used in our comparisons.

  Study EGAS00001002333

• Cancer Genomics, ICR, summary data

  DAC for summary level data from the Cancer Genomics group, Division of Genetics and Epidemiology at the Institute of Cancer Research, Sutton, UK.

  Dac EGAC50000000050

• Picuris Pueblo Genomic Project (Modern Data)

  Data Access Committee for the present-day dataset of the project "Picuris Pueblo oral history and genomics reveal continuity in US Southwest".

  Dac EGAC50000000526

• HumanOrigins_SW_Angola

  The compressed file contains plink format files for the Affymetrix Human Origins SNP array data of 208 Angolan individuals

  Dataset EGAD00010002458

• Pediatric Low-Grade Glioma RNA and Targeted Sequencing

  Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS/MAPK pathway yet show unexplained variability in their clinical outcome. To address this, we characterized a cohort of >1,000 clinically annotated pLGG. 84% of cases harbored a driver alteration, while those without an identified alteration also often exhibited up-regulation of the RAS/MAPK pathway. pLGG could be broadly classified based on their alteration type. Rearrangement-driven tumors were diagnosed at a younger age, enriched for WHO grade I histology, infrequently progressed, and rarely resulted in death as compared to SNV-driven tumors. Further sub-classification of clinical-molecular correlates stratified pLGG into risk categories. These data highlight the biological and clinical differences between pLGG subtypes and opens avenues for future treatment refinement.

  Study EGAS00001004242

• RNAseq files for CHEN WTPDX RNASEQ

  RNAseq files for CHEN WTPDX RNASEQ paper titled "Forty-Five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor"

  Dataset EGAD00001004507

• MT amplicon sequencing reads of 217 Egyptian individuals

  This data set contains for 217 Egyptian individuals the amplicon sequencing reads mapping to chrM. These were subsequently used for haplogroup assignment.

  Dataset EGAD00001006040

• RNASeq files for Klco tMN data

  RNASeq files for paper titled "The Acquisition of Molecular Drivers in Pediatric Therapy-Related Myeloid Neoplasms"

  Dataset EGAD00001006674

• WXS files for Klco tMN data

  WXS files for paper titled "The Acquisition of Molecular Drivers in Pediatric Therapy-Related Myeloid Neoplasms"

  Dataset EGAD00001006675

• WGS files for Klco tMN data

  WGS files for paper titled "The Acquisition of Molecular Drivers in Pediatric Therapy-Related Myeloid Neoplasms"

  Dataset EGAD00001006676

• Whole-genome sequencing data for 449 Nigerian individuals

  Whole-genome sequencing data in the form of multi-sample, per-chromosome VCFs for n=449 individuals across 47 unique ethnolinguistic groups.

  Dataset EGAD00001010095

• neoALTTO

  RNAseq fastq files for 254 samples for the neoALTTO study of lapatinib, trastuzumab or combination in HER2+ breast cancer patients. Those are pre-treatment baseline samples.

  Dataset EGAD00001011354

• Epigenomic analysis of the human placenta and endometrium constituting the fetal-maternal interface

  This study aims to determine the reference epigenomes of the human placenta and endometrium, which constitute the fetal-meternal interface, for future use in studies of human diseases associated with reproduction and development. In the placenta, we focus on cytotrophoblast and syncytiotrophoblast cells (both at first trimester and at term) and, in the endometrium, we focus on epithelial cells (at the follicular and secretory phases) and stroma cells. These reference epigenomic data will be of valuable resource in studying disease-associated differences in epigenomic modification in the reproductive system. JGA submission accessions: JGA000074,JGA00000000074

  Study JGAS000073

• Epigenomic analysis of the human placenta and endometrium constituting the fetal-maternal interface

  This study aims to determine the reference epigenomes of the human placenta and endometrium, which constitute the fetal-meternal interface, for future use in studies of human diseases associated with reproduction and development. In the placenta, we focus on cytotrophoblast and syncytiotrophoblast cells (both at first trimester and at term) and, in the endometrium, we focus on epitherial cells (at the follicular and secretory phases) and stroma cells. These reference epigenomic data will be of valuable resource in studying disease-associated differences in epigenomic modification in the reproductive system. JGA submission accessions: JGA000117,JGA00000000117

  Study JGAS000107

• Ancient genomes reveal insights into ritual life at Chichén Itzá

  To better understand the origin and biological relationships of the sacrificed children from Chichén Itzá to each other and to present-day inhabitants of the region, here we used a combined bioarchaeological and genomics approach to investigate 64 subadults interred within a chultún near the Sacred Cenote and compare them to 68 present-day Maya inhabitants of the nearby town of Tixcacaltuyub, as well as to other available ancient and contemporary genetic data from the region. The community of Tixcacaltuyub has been collaborating with our research team for many years, and their perspectives informed the development of this project.

  Study EGAS50000000296

• SNP genotyping data in genes related to trace element homeostasis

  In this study we provide data regarding sample charactheristics and genotypes in 150 human samples of European origin for SNPs located around genes related to metal homeostasis. SNPs were genotyped with the Illumina VeraCode technology (192-plex format). The genotyped SNPs were used to identify quantitative trait loci in the same samples. Data referring to the quantification of 18 micronutrients, the expression levels of 90 genes and the protein abundances of 40 proteins related to metal homeostasis in the same samples are directly available as supplementary material in the publication of this study.

  Study EGAS00001001292

• DAC for Rare Disease Studies from the Broad Institute

  Dac EGAC00001000566

• DAC for the Prostate Cancer Lymph Node dataset

  Dac EGAC00001000586

• DAC for the study EGAS00001003368

  Dac EGAC00001001270

• DAC for the study EGAS00001004301

  Dac EGAC00001001571

• Data access committee for the ADJUVANT biomarker study

  Dac EGAC00001002333

• Data Access Committee for the Radovanovic group

  Dac EGAC00001002942