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• The multifaceted genomic history of Ashaninka from Amazonian Peru

  Genome-wide profiles of Ashaninkas from Peruvian Amazonia reveal two genetic subgroups. Ashaninka ancestors derived from a south-north migration from southeastern South America. The Ashaninka1 subgroup testifies to an Arawakan-Caribbean genetic link in the Early Ceramic Age. The Ashaninka2 subgroup had recent interactions with Andean and Pacific Indigenous populations.

  Study EGAS00001006958

• 79 Human Hearts snRNAseq

  Using single-nucleus RNA sequencing, we characterized the transcriptome of 880,000 nuclei from 18 control and 61 failing, nonischemic human hearts with pathogenic variants in DCM and ACM genes or idiopathic disease.

  Dataset EGAD00001009292

• TK-EPN862 - Patient-derived xenograft model of Posterior Fossa A Ependymoma - RNAseq

  In Vivo Loss of Tumorigenicity in a Patient-Derived Orthotopic Xenograft Mouse Model of Ependymoma. Whitehouse et al. 2023 Frontiers in Oncology. We describe the establishment of a patient-derived orthotopic xenograft (PDOX) model of posterior fossa A (PFA) EPN, derived from a metastatic cranial lesion. Patient and PDOX tumors were analyzed using RNA sequencing. RNAseq data (paired end) provided here correspond to Primary tumour, two metastatic lesions (one spinal, one cranial), and a patient-derived xenograft derived from the patient.

  Dataset EGAD00001009870

• RNAseq data from NEN patient derived tumor organoids (PDTOs) and matched parental tumors - NKI/UMCU

  The dataset includes fastq files from 15 NEN tumors or metastases and matched PDTOs. The sequencing was done with either a Nextseq 2000 or a NovaSeq 6000 instrument.

  Dataset EGAD00001009992

• Duplex sequencing of selected breast cancer patients

  This study assessed the variant profiles of 22 samples from 11 breast cancer patients with adverse survival outcomes, including paired uninvolved mammary gland samples collected at various distances from primary lesions. Ultra-deep sequencing was performed to identify the presence of low-frequency pathogenic post-zygotic variants in PIK3CA and TP53 genes.

  Study EGAS50000000538

• Whole Exome sequencing of Gingivo-buccal Cancer - ICGC India Project Batch04

  This dataset pertains to whole exome sequencing of paired DNA samples of Gingivo-buccal oral cancer patient.DNA was isolated from the tumor and blood tissues of 47 patients (94 samples).We have performed Nextera exome capture and sequenced exome libraries in Illumina HiSeq platform.We have uploaded BWA-ALN aligned BAM files.

  Dataset EGAD00001003987

• Study of Adaptation to Hypoxia in Ethiopian Highlanders via Whole Genome Sequencing

  Although it has long been proposed that genetic factors contribute to adaptation to high altitude, such factors remain largely unverified. Recent advances in high-throughput sequencing have made it feasible to analyze genome-wide patterns of genetic variation in human populations. Since traditionally such studies surveyed only a small fraction of the genome (either exons or a subset of SNPs) or a group of candidate genes, interpretation of the results was limited. We focused our study on Ethiopian highlander populations, which have been found to be well adapted to high altitudes (~3500m). We sequenced and analyze the genomes of 13 high altitude native Ethiopians: 6 individuals of Oromo heritage living on Bale Plateau (labeled "Oromos"), and 7 individuals residing on the Chennek field in the Simien Mountains (labeled "Amhara"). Our study revealed evolutionarily conserved genes that modulate hypoxia tolerance.

  Study phs000647

• RNA sequencing of surgically removed lung adenocarcinoma afterwards treated with immune checkpoint inhibitors

  Patients with lung adenocarcinoma (LUAD) from The Cancer Genome Atlas (TCGA) database were enrolled in the training cohort to establish a prognostic signature based on the expression of tumor-specific amino acid metabolism related genes. The established signature was further investigated against an original cohort, KCC-ICI, of chemotherapy combined with immune checkpoint inhibitors. The signature consisting of nine genes, KYNU, PSPH, PPAT, MIF, GCLC, ACAD8, TYRP1, ALDH2, and HDC, could effectively stratify the OS in LUAD patients. The KCC-ICI cohort confirmed the predictive ability of the established signature in the clinical response to immune checkpoint blockade therapy, which correlated with the infiltration of immune cells (e.g., T lymphocytes and nature killer cells). We discovered that the high signature risk score patients showed a significantly lower concentration of plasma-free ??-aminobutyric acid (AABA).

  Study JGAS000675

• Genome and transcriptome sequence data from a tongue squamous cell carcinoma (head and neck) patient

  Genome and transcriptome sequence data from a tongue squamous cell carcinoma (head and neck) patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001005865

• Integrative genomic analyses reveal androgen-driven somatic alteration landscape in early-onset prostate cancer

  Early-onset prostate cancer (EO-PCA) represents the earliest clinical manifestation of prostate cancer. To compare the genomic alteration landscapes of EO-PCA with "classical" (elderly-onset) PCA, we performed deep sequencing-based genomics analyses in eleven tumors diagnosed at young age, and pursued comparative assessments with seven elderly-onset PCA genomes. Remarkable age-related differences in structural rearrangement (SR) formation became evident, suggesting distinct disease pathomechanisms. Whereas EO-PCAs harbored a prevalence of balanced SRs, with a specific abundance of androgen-regulated ETS gene fusions including TMPRSS2:ERG, elderly-onset PCAs displayed primarily non-androgen-associated SRs. Data from a validation cohort of >10,000 patients showed age-dependent androgen receptor levels and a prevalence of SRs affecting androgen-regulated genes, further substantiating the activity of a characteristic "androgen-type" pathomechanism in EO-PCA.

  Study EGAS00001000400

• Genome and transcriptome sequence data from a invasive high-grade serous carcinoma involving tubal mucosa and ovary with serosa patient

  Genome and transcriptome sequence data from a invasive high-grade serous carcinoma involving tubal mucosa and ovary with serosa patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001010971

• Genome and transcriptome sequence data from a sigmoid cancer and an ampullary cancer patient

  Genome and transcriptome sequence data from a sigmoid cancer and an ampullary cancer patient, generated as part of the BC Cancer Agency's Personalized OncoGenomics (POG) study

  Dataset EGAD00001003046

• MSI-Exome-DAC Team Microsatellites Instability and Cancer, INSERM Hospital Saint-Antoine, Paris 12, France Carte d'identité des tumeurs, French league against cancer, Paris France

  Dac EGAC00001000665

• Early on-treatment changes in circulating tumor DNA fraction and response to enzalutamide or abiraterone in metastatic castration-resistant prostate cancer - Data Access Committee

  Dac EGAC00001003128

• UTSW KCP DAC

  This DAC manages access to WES and RNA-Seq data from studies approved under the IRBs of KCP principal investigators.

  Dac EGAC50000000203

• High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune contexture, clinical outcome and sensitivity to targeted therapies

  Study EGAS00001004612

• Mutation and Microsatellite Burden Predict Response to PD-1 Inhibition in Children with Germline DNA Replication Repair Deficiency: An Observational Registry Study

  Study EGAS00001005579

• TSO500 on DNA

  Targeted sequencing using the TruSight Oncology 500 DNA probes panel, on samples 162 and 521

  Dataset EGAD50000000270

• Gentoypes_Lesotho

  Individuals genotyped on the Illumina GSA v2. Autosome and X chromosome.

  Dataset EGAD00010002468

• DNA_Methylation_450K

  BLUEPRINT DNA methylation profiles of monocytes, neutrophils and T cells from healthy donors

  Dataset EGAD00010000850

• RNA-Sequencing generated from 180 human putamen and substantia nigra

  Dataset EGAD00001005526

• RNA-seq data from diagnosis and relapse samples of Down Syndrome acute lymphoblastic leukemia.

  Dataset EGAD00001003280

• Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets

  Dataset EGAD00001001096

• Comprehensive Characterization of Early Relapse and End-Stage Relapsed Refractory Multiple Myeloma (HIPO K08K/H067/H021+nonHIPO)

  Study EGAS00001007469

• Disorders of growth and insulin action

  Illumina paired-end sequencing of whole- exome pulldown DNA from Severe Insulin Resistant patients.

  Dataset EGAD00001000381

• Osteosarcoma exome sequencing dataset

  Whole exome sequencing data of primary, secondary and tertiary tumor from a patient.

  Dataset EGAD00001002145

• ORIENT study

  scRNAseq dataset containing 5 healthy donors and 4 asthmatic donors.

  Dataset EGAD00001009687

• Whole Genome, RNA, and ChIP Sequencing of matched brain tumor-normal pairs (ICGC)

  Whole Genome Seq: Illumina HiSeq sequence data (with >30x coverage) were aligned to the hg19 human reference genome assembly using BWA (Li and Durbin, 2009);duplicate reads were removed from the final BAM file. No realignment or recalibration was performed. Paired-end RNA sequencing reads were mapped to the hg19 assembly of the human reference genome using BWA.Each ChIP-seq library was sequenced with two complete lanes on the Illumina HiSeq 2500 in the 101-bases paired-end rapid mode and aligned to hg19 using bwa.This resulted in the following coverage values (genome-wide, after deduplication, including all uniquely mapping reads):GBM103 macroH2A1: 17x H3K36me3: 20xMB59 macroH2A1: 11x H3K36me3: 11x

  Dataset EGAD00001000664

• Direct transcriptional consequences of somatic mutation in breast cancer

  The disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription; co-ordinated secondary alterations in transcriptional pathways; and increased transcriptional noise. To catalogue the rules governing how somatic mutation Overall, 59% of 6980 exonic substitutions were expressed. Compared to other classes, nonsense mutations showed lower expression levels than expected with patterns characteristic of nonsense-mediated decay. 14% of 4234 genomic rearrangements caused transcriptional abnormalities, including exon skips, exon reusage, fusion transcripts and premature poly-adenylation. We found productive, stable transcription from sense-to-antisense gene fusions and gene-to-intergenic rearrangements, suggesting that these mutation classes may drive more transcriptional disruption than previously suspected. Systematic integration of transcriptome with genome data therefore reveals the rules by which transcriptional machinery interprets somatic mutation.

  Dataset EGAD00001002237

• Somatic pathogenic variants in the normal mammary gland of sporadic breast cancer patients

  This dataset contains .fastq files generated by targeted DNA sequencing of 542 cancer-associated and cadidate genes (52 individuals), and targeted duplex sequencing of PIK3CA and TP53 genes (4 individuals).

  Dataset EGAD00001008327

• The molecular landscape of colorectal cancer reveals genetic mutations（5 cases）

  We collected tumor samples and adjacent nomal mucosae from 5 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing.

  Dataset EGAD00001003223

• The molecular landscape of colorectal cancer reveals genetic mutations（17 cases）

  We collected tumor samples and adjacent nomal mucosae from 17 patients with colorectal cancer in surgical operation from 2014 to 2016 in the First Affiliated Hospital of Chongqing Medical University (Chongqing, China) and the Research Institute of Surgery, Third Military Medical University (Chongqing, China). the qualified captured library of each sample was then loaded on Illumina HiSeq 2000 (Illumina, San Diego, CA) platforms and subjected to high-throughput sequencing.

  Dataset EGAD00001003224

• Baulac Lab - Paris Brain Institute

  Raw 10X single-nucleus RNA-seq data from human postoperative brain samples of patients with epilepsy and cortical malformations.

  Dac EGAC50000000546

• ILC RNAseq dataset

  RNAseq data from ILC (n=168) and IC-NST/IDC (n=79)

  Dataset EGAD50000002527

• CRISPR_perturbations_IRF4_PRDM1_Bcells

  CRISPR perturbations of IRF4, PRDM1, and AAVS1 (within PPP1R12C gene) in activated B cells

  Dataset EGAD50000002113

• DLBCL cfDNA seq

  Sequencing dataset of 290 DLBCL and HGBL cfDNA samples of paired end 150bp sequencing runs.

  Dataset EGAD50000000602

• Whole-exome sequencing of buccal mucosa samples

  40 buccal mucosa samples and a paired blood sample were whole-exome sequenced.

  Dataset EGAD50000000080

• miRNA profiling of human plucked hair follicle

  miRNA profiling of human plucked hair follicle from frontal and occipital scalp

  Dataset EGAD00010001500

• EGAD00010000450

  Genome Wide Genotype Data

  Dataset EGAD00010000450

• Medulloblastoma Illumina RNA-Seq

  Illumina RNA-sequencing of Medulloblastoma primary and relapse tumor.

  Dataset EGAD00001009425

• Medulloblastoma Illumina WGS

  Illumina whole genome sequencing of Medulloblastoma Blood, Primary tumor, and Relapse tumor

  Dataset EGAD00001009424

• Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

  Dataset EGAD00001003778

• RNA Editing Transcriptome

  Transcriptome sequencing data of tumor and 10 matched normal samples of the EGAS00001000495 project

  Dataset EGAD00001000627

• The UCSF Glioblastoma Genome Project #1

  Dataset contains MeDIP-Seq, MRE-Seq and H3K4me3 ChIP-Seq data on 5 GBM patients.

  Dataset EGAD00001000777

• Whole Genome Sequencing of acral melanoma

  Whole Genome Sequencing of 5 acral melanomas and matched normal samples

  Dataset EGAD00001000944

• Transcriptomic profiling of lymphedema

  RNA-seq of skin from human subjects with and without lymphedema

  Dataset EGAD00001006246

• Exome Sequencing of Gastric Cancer Samples

  We perform whole exome sequencing on 50 pairs of gastric cancer and matched normal samples.

  Dataset EGAD00001006957

• High-grade meningioma sequencing data

  Whole genome, whole exome, and custom panel sequencing of high-grade meningioma cohort

  Dataset EGAD00001003220

• JKLab, SNU College of Medicine

  JKLab, Lab of Cellular Translational Medicine, Department of Anatomy and Cell Biology, Seoul National University College of medicine.

  Dac EGAC50000000288

• Immunopeptidomics of colorectal cancer organoids reveals a sparse HLA class I neoantigen landscape and no increase in neoantigens with interferon or MEK-inhibitor treatment

  Study EGAS00001003886