13393 results for ""pdc"+"heritage+language"+census+study"

in 24.97 milliseconds.

• Organoid_Derivation_Project__WGS

  Generation of normal and cancer organoids for sequencing as part of the WTSI-CRUK international collaboration with NCI (in HCMI) to generate the next generation of cancer cell lines

  Study EGAS00001002222

• Germline DNMT3A mutation in mother-son pair with AML

  A mother/son pair with adult onset diploid AML were evaluated and found to have a dominant negative germline mutation in DNMT3A that is associated with global hypomethylation

  Study EGAS00001002940

• Role_of_HPV_and_Interferon_in_APOBEC_mutational_signature

  The aim of this project is to test whether HPV oncogenes and /or interferon induce the APOBEC mutational signature in vitro, and to test the role of APOBEC3A in this process.

  Study EGAS00001002988

• Cabozantinib Response in ETV6-NTRK3 G623R Positive Carcinoma HIPO-021

  We report a case of marked response to cabozantinib in a secondary entrectinib-resistant tumor harboring the ETV6-NTRK3 fusion with a G623R solvent-front mutation.

  Study EGAS00001004494

• Whole-exome sequencing of additional thyroid disease cases (2017-05-11)

  Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). This dataset contains all the data available for this study on 2017-05-11.

  Dataset EGAD00001003331

• Characterization of iPSC derived macrophages - cardiovascular pilot (2017-05-24)

  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 2017-05-24.

  Dataset EGAD00001003347

• WES fastq files of IPDGC UK cohort

  As part of the International Parkinson's Disease Genomics Consortium, exomes of Parkinson's disease (PD) patients and healthy controls were sequenced to study the genetic etiology of PD. This UK cohort consists of 70 PD patients. Researchers can apply for access to fastq files for this cohort.

  Dataset EGAD00001003096

• Transcriptome (RNA-seq) data for the validation of the glioblastoma progression study (GBMatch).

  37 transcriptomes derived from fresh-frozen glioblastoma tumor samples. These transcriptomes have been produced for validation purposes and match the corresponding RRBS and WGS profiles in that DNA and RNA was extracted from the same tumor samples.

  Dataset EGAD00001004076

• Genomic (WGS) data for the validation of the glioblastoma progression study (GBMatch).

  43 low-coverage genomes derived from fresh-frozen glioblastoma tumor samples. These genomes have been produced for validation purposes and match the corresponding RRBS and RNA-seq profiles in that DNA and RNA was extracted from the same tumor samples.

  Dataset EGAD00001004077

• Edinburgh Naevi Cohort (2018-08-03)

  In this project we have sequenced the exome of skin moles (melanocytic naevi) and also normal skin from young and old people. We are interested in looking at the clonality of these lesions and the burden of UV mutations . This dataset contains all the data available for this study on 2018-08-03.

  Dataset EGAD00001004273

• Whole-exome sequencing of additional thyroid disease cases (2018-08-13)

  Whole-exome sequencing of a cohort of families (probands and affected/unaffected relatives) suffering from one of two rare thyroid disorders: congenital hypothyroidism (CH) and resistance to thyroid hormone (RTH). . This dataset contains all the data available for this study on 2018-08-13.

  Dataset EGAD00001004293

• Whole genome sequencing (bam files) of 5 samples of myxofibrosarcoma and 5 matched pairs

  Myxofibrosarcoma (MFS) is a rare subtype of sarcomas in the elderly, whose genetic basis is poorly understood. To elucidate it, the whole genome sequence was performed.

  Study EGAS00001005444

• Colon adenomas and adenocarcinomas and matched mucosae

  Whole exome sequencing in sporadic colorectal cancers (CRC) and advanced adenomas (Ad-As), and their paired healthy mucosa, for a deeper understanding of the biology of this cancer.

  Study EGAS00001007255

• RNA-seq of CD34+ HSPCs from LRMDS patients

  To profile transcriptional alterations of HSPCs in LR-MDS patients, 7AAD−CD45+Lin-CD235a−CD34+ cells were isolated from healthy donors and LR-MDS patients for RNA sequencing.

  Study EGAS00001008182

• Whole exome sequencing (bam files) of 55 samples of myxofibrosarcoma and 44 matched pairs

  Myxofibrosarcoma (MFS) is a rare subtype of sarcomas in the elderly, whose genetic basis is poorly understood. To elucidate it, the whole exome sequence was performed.

  Study EGAS00001005442

• Covid19 WGS Raw Read files

  The Samples were collected from Saint James's Hospital, Dublin and after informed consent Extracted Genomic DNA samples were prepared and sequenced using the Automated Illumina TruSeq PCR-free methodology.

  Study EGAS00001007106

• Targeted-capture sequencing (bam files) of 81 samples of myxofibrosarcoma and 44 matched pairs

  Myxofibrosarcoma (MFS) is a rare subtype of sarcomas in the elderly, whose genetic basis is poorly understood. To elucidate it, the Targeted-capture sequencing was performed.

  Study EGAS00001005443

• Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD

  To investigate the mode of action and potential side-effects we analyzed differential gene expression in post-mitotic C9orf72 iPSC-Neurons by RNAseq

  Study EGAS00001006138

• Targeted_NanoSeq_Sperm

  Targeted NanoSeq in sperm samples provided by healthy patients. A custom-designed panel of ~200 genes will be used to achieve high depth coverage (aiming for ~1000X at panel sites).

  Study EGAS00001005920

• ATAC-Seq on OCIAML-22 Fractions

  The donor AML patient (unsorted) that was used to generate OCI-AML22 was expanded for 3-4 months, then sorted for the indicated fraction (CD34p: CD34+; CD34m: CD34-)

  Study EGAS00001006511

• Bulk RNA-seq of stromal cells from multiple cancer types

  We sorted CD45-CD44+CD90+ stromal cells from multiple tumor types and performed bulk RNA-seq. The data allows to infer CAF programs active across indications.

  Study EGAS00001006497

• Prediction of HLA genotypes using NGS data

  High-precision human leukocyte antigen (HLA) genotyping is crucial for anti-cancer immunotherapy, but existing tools predicting HLA genotypes using next-generation sequencing (NGS) data are insufficiently accurate.

  Study EGAS00001005274

• Targeted_NanoSeq___TwinsUK_Blood

  Utilising Targeted NanoSeq, we hope to explore the driver landscape in unprecedented detail in donors from TwinsUK. These donors have paired buccal swabs and data from this will help contextualise that work.

  Study EGAS00001007595

• Measurable residual disease in elderly acute myeloid leukemia: results from the PETHEMA-FLUGAZA phase III clinical trial

  In our study, we hypothetyzed that CD34progenitors from cases with undetectable Minimal residual Disease (MRD) by flow cytometry would contain cells with leukemic-initiating-potential that could be identified on genetic (rather than phenotypic) grounds by Whole Exome Sequencing.

  Dataset EGAD00001006585

• Ribosome Profiling of Macrophages during Salmonella Infection

  The aim of this study is to assess translational changes in macrophages over a time course of Salmonella infection.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/

  Dataset EGAD00001001393

• 200PG : WGS Raw Sequence (fastq)

  200PG : WGS Raw Sequence (fastq) : Raw WG sequence data (fastq) in this dataset are from the 124 CPCGene Tumour/Normal Pairs used in the 200PG Study. https://www.ncbi.nlm.nih.gov/pubmed/28068672

  Dataset EGAD00001001094

• FFPE CPA Accreditation Study

  FFPE CPA accreditation of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using targeted pulldown capture prior to Illumina sequencing.

  Dataset EGAD00001000678

• Breast Cancer Sequential Sampling Targeted Capture

  This study aims to target capture sequence regions of interest from DNA derived from breast cancer patients who received neo-adjuvant chemotherapy. All patients had multiple biopsies performed before chemotherapy. Patients who had residual disease after the course of treatment underwent a further biopsy. We aim to characterise the mutations involved.

  Dataset EGAD00001000784

• Targeted Sequencing of Human Myeloid Malignancies

  This study involves targeted sequencing of samples from myeloid malignancies at different timepoints to assess clonal evolution of malignancy a. 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/

  Dataset EGAD00001002225

• TONIC study RNASeq

  Transcriptome sequencing of 97 matched TNBC breast cancer metastasis samples obtained from 50 unique patients assayed at two timepoints: at baseline (directly after patient randomization), and post-induction treatment or control waiting period. The included raw transcriptome sequencing data (fastq-format) were generated using Illumina HiSeq2500 instruments.

  Dataset EGAD00001004858

• Chromatin 3D interactions mediate genetic effects on gene expression (RNA-seq)

  RNA-seq data for 168 Lymphoblastoid Cell Lines (LCL) and 78 Fibroblasts (FIB) from the Gencord Cohort. This dataset was generated as part of the following study: Delaneau et al (2019). Chromatin 3D interactions mediate genetic effects on gene expression.

  Dataset EGAD00001004872

• Clinical phenotypes/covariates

  This dataset contains the clinical phenotypes/covariates information for all the individuals. This dataset was generated as part of the following study: Panousis et al (2019). Combined genetic and transcriptome analysis of patients with SLE: Distinct, targetable signatures for susceptibility and severity.

  Dataset EGAD00001005040

• CRISPR screen M14, NCI-H3122 (2019-08-28)

  Genome wide CRISPR screen was performed to find resistance to targeted drugs for melanoma and lung . This dataset contains all the data available for this study on 2019-08-28.

  Dataset EGAD00001005296

• Woodcock et al TenMenDeep Study EGA Dataset A

  Woodcock et al TenMenDeep EGA Dataset A. These are Illumina based deep sequencing data based on bait capture sequencing. See Woodcock et al methods for more detail. Note: the Amplicon sequencing data type is selected because the EGA Website currently has no option to select Bait Capture Sequencing or similar.

  Dataset EGAD00001005381

• Sequencing of patient samples who received immune checkpoint inhibition - WES - NKI (2019-08-07)

  DNA and RNA isolated from FFPE blocks of patients who received immune checkpoint inhibition (ICI) are sequenced with the aim to identify therapeutically tractable vulnerabilities in tumors to prevent ICI resistance. . This dataset contains all the data available for this study on 2019-08-07.

  Dataset EGAD00001005235

• Woodcock et al TenMenDeep Study EGA Dataset B

  Woodcock et al TenMenDeep EGA Dataset B. These are Illumina based deep sequencing data based on bait capture sequencing. See Woodcock et al methods for more detail. Note: the Amplicon sequencing data type is selected because the EGA Website currently has no option to select Bait Capture Sequencing or similar.

  Dataset EGAD00001005382

• Pseudodiastrophic dysplasia exome sequencing dataset

  This dataset contains 7 paired end fastq files obtained with Illumina Hiseq and Nextseq sequencing of whole exomes relevant to a study of pseudodiastrophic dysplasia (PDD). It includes 3 patients from 2 unrelated families diagnosed with PDD, together with the four parents.

  Dataset EGAD00001005775

• WGS from PDAC samples

  Bam files from WGS of PDAC samples used in the PCSI mismatch repair study

  Dataset EGAD00001006262

• PFA ependymoma study -WGS data

  WGS bam file for the 18 samples used in Michealraj et al. Cell 2020. The dataset includes PFA ependymoma tissue, derived line and blood samples of 6 patients WGS data were aligned with BWA to the hg38 human reference genome (igenome) and further processed according to the GATK best practice pipeline.

  Dataset EGAD00001006045

• WES data generated in multifocal ileal NETs study

  This dataset includes whole-exome sequencing data for multifocal ileal tumor samples from two patients. Exonic sequences were enriched using the Agilent V2 capture probe set and sequenced by 76-bp paired-end reads using the Illumina Genome Analyzer IIx system with a mean coverage of 80x for each base

  Dataset EGAD00001006408

• WGS data for 67 patient cohort

  This dataset includes WGS data of samples from our paper titled "Dynamic phenotypic heterogeneity and the evolution of multiple RNA subtypes in Hepatocellular Carcinoma: The PLANET study." (National Science Review, nwab192. https://doi.org/10.1093/nsr/nwab192)

  Dataset EGAD00001008647

• RNA-seq data for 67 patient cohort

  This dataset includes RNA-seq data of samples from our paper titled "Dynamic phenotypic heterogeneity and the evolution of multiple RNA subtypes in Hepatocellular Carcinoma: The PLANET study." (National Science Review, nwab192. https://doi.org/10.1093/nsr/nwab192)

  Dataset EGAD00001008648

• CBD-KEY-CITESEQ-LINKER: Linker file for CITEseq sequencing data

  Linker file for COMBAT CITEseq sequencing data. Links COMBAT sample IDs with sequencing pools and their associated raw sequence data. Sequence data can be found in the following datasets: ADT data: EGAD00001007962 GEX data: EGAD00001008007 VDJ (B-cell): EGAD00001007964 VDJ (T-cell): EGAD00001007965

  Dataset EGAD00001008008

• scRNAseq/snucRNAseq of human implantation sites, placenta and decidua

  This dataset is part of a study that aims to provide a spatially resolved single-cell multiomics map of human trophoblast differentiation in early pregnancy. This dataset contains snucRNAseq; from three human implantation sites (between 8 and 12 post-conceptional weeks, PCW) from medical hysterectomies.

  Dataset EGAD00001010037

• Multiomic snRNAseq/snATACseq of human implantation sites, placenta and decidua

  This dataset is part of a study that aims to provide a spatially resolved single-cell multiomics map of human trophoblast differentiation in early pregnancy. This dataset contains 10x multiome snRNA-seq/snATAC-seq from human implantation sites, decidual and placental samples from 8-9 PCW.

  Dataset EGAD00001010038

• MutaSeq data for A.10-12

  MutaSeq was applied to CD34+ cells from patient samples A.10, A.11 and A.12 of the study. The protocol followed is described in https://doi.org/10.1038/s41467-021-21650-1 and in the methods of the manuscript

  Dataset EGAD00001010189

• cfDNA methylation profiling in Metastatic Cancer and Cancer of Unknown Primary

  This study contains methyl-binding domain sequencing and shallow whole genome sequencing from circulating cell-free DNA (cfDNA) for 143 patients with metastatic cancer of known type, 41 patients with Cancer of Unknown Primary (CUP) and 27 non-cancer controls.

  Dataset EGAD00001011178

• Single cell TotalSeqC protein data of 20 PMBC pools of HCC patients

  Single cell TotalSeqC protein data serial peripheral blood mononuclear cell (PBMC) samples taken from advanced HCC patients. TotalSeqC is available for 41 out of 72 PBMC samples included in the study, and were combined into 20 pools.

  Dataset EGAD00001011346

• Genome and transcriptome sequence data from a infantile fibrosarcoma tumor patient

  Genome and transcriptome sequence data from a infantile fibrosarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015263

• Genome and transcriptome sequence data from a CNS sarcoma tumor patient

  Genome and transcriptome sequence data from a CNS sarcoma patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics study

  Dataset EGAD00001015268