22952 results for "ega"

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• Mutational signatures in esophageal squamous cell carcinoma from eight countries of varying incidence – patient metatdata (Mutographs)

  Mutational signatures in esophageal squamous cell carcinoma from eight countries of varying incidence – patient metatdata (Mutographs)

  Dataset EGAD00001006732

• aGCT germline WGS

  Whole genome sequencing BAMs of DNA obtained from blood/saliva of 8 patients with adult granulosa cell tumors. These patients come from four independent families, with each family having 2 affected family members.

  Dataset EGAD00001006780

• Mutational signatures in esophageal squamous cell carcinoma from eight countries of varying incidence – sequence data (Mutographs)

  Mutational signatures in esophageal squamous cell carcinoma from eight countries of varying incidence – sequence data (Mutographs)

  Dataset EGAD00001006868

• Clinical phenotype data

  Clinical data corresponding to the patients with ovarian cancer studied using scRNA-seq and bulk RNA-seq. Variables include molecular subtype, predicted immune phenotype, reviewing pathologist comment, final immune phenotype, histology characterization, and tumor stage.

  Dataset EGAD00001006973

• A98283A

  Whole genome sequencing for single cells for library A98283A 1137 cells; filetype=bam

  Dataset EGAD00001007130

• GOSH_Tumour_Embryology_Paediatric_Behjati_RNA_Managed_Access

  The aim of the study is to study thyroid development and function, and how this is altered in Down Syndrome and Thyroid Cancer.

  Study EGAS00001006737

• Exome_sequencing_of_short_SGA_children_with_IGF_I_and_insulin_resistance

  Exome sequencing of short SGA children with IGF-I and insulin resistance. Collaboration with Professor David Dunger, University of Cambridge. Funded by NIHR.

  Study EGAS00001001086

• Analysis of the lung gene expression profile in COPD

  Samples obtained from patients with COPD and from controls by bronchoscopy from the lung were subjected to RNA seq.

  Study EGAS00001001472

• Neoadjuvant_Breast_Cancer_Validations

  This study aims to re-sequence findings from whole genome studies using a bespoke pulldown method to validate mutations in those genomes sequenced.

  Study EGAS00001000428

• Genome sequencing of HCC from a Chinese cohort

  project aims to understand somatic variants, differential expressed genes and signaling pathways in HBV- and NASH related HCC tumors.

  Study EGAS00001001783

• Colorectal_organoids_and_tumoroids___pulldown

  Targeted capture of cancer gene panel bait set in single cell derived organoids from colon tissue and colorectal cancer from 1 patient.

  Study EGAS00001000869

• Identification of fungal species in brain tissue from Alzheimer's disease

  Identification of fungal species present in the central nervous system tissue from Alzheimer's disease patients by next-generation sequencing.

  Study EGAS00001002228

• Whole exome-sequencing of pediatric and adult H3-K27M diffuse midline glioma

  H3-K27M mutant difffuse midline gliomas across different age groups and anatomical locations were profiled by WES.

  Study EGAS00001006431

• Whole genome and RNAseq analysis of pediatric osteosarcoma

  Integrative analysis whole genome sequencing and RNA-seq in pediatric osteosarcoma primary tumors and patient derived tumor xenografts.

  Study EGAS00001003201

• GWAS in a dengue Thai cohort

  Around 700,000 SNPs were genotyped in 290 controls, 252 dengue fever patients and 159 dengue shock syndrome patients from Thailand.

  Study EGAS00001002756

• Genomic profiling of esthesioneuroblastoma

  We performed whole exome and whole genome sequencing on a cohort of esthesioneurblastoma to understand the genetic underpinnings of this neoplasm.

  Study EGAS00001003225

• WTCCC2 Pre-eclampsia Study

  A WTCCC2 project genome-wide association study for pre-eclampsia (PA) in 4375 individuals from Colombia, genotyped on the Affymetrix 6.0 array.

  Study EGAS00001003349

• Single cell RNA seq of the developing human embryo brain

  The study aims at identifying the cell types and lineages of the developing human brain.

  Study EGAS00001004107

• Indonesian Genome Diversity Project 2, genotyping data

  This study reports Illumina Omni 2.5M genotyping chip data for 48 individuals from Aru, Mentawai, New Guinea and Sumba islands.

  Study EGAS00001003670

• Familial Myeloid Leukemia

  Exomes from 48 individuals affected by some form of familial myeloid leukemia (MDS, AML, BMF TCP) with variants in 60 candidate genes

  Study EGAS00001003399

• CRC GWAS on the Spanish population

  Genome-wide association study performed on the EPICOLON2 cohort, comprising colorectal cancer cases and matched controls of Spanish origin.

  Study EGAS00001003633

• KLB mutations in congenital hypogonadotropic hypogonadism

  To test if patients with congenital hypogonadotropic hypogonadism harbor mutations in FGF21 and KLB (encoding the co-receptor of FGF21)

  Study EGAS00001002568

• Therapeutic vulnerabilities in the DNA damage response for the treatment of ATRX mutant neuroblastoma

  Whole genome sequencing of ATRX / TP53 knockdown clones of the neuroblastoma cell line SK-N-SH

  Study EGAS00001004550

• RNA Sequencing of paediatric patients with B lymphoblastic leukemia

  RNA sequencing was performed on 148 Bone marrow of peripheral blood samples of paediatric patients with B-ALL.

  Study EGAS00001004532

• RNA-seq dataset 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.

  Dataset EGAD00001015771

• Fine-Scale Genomic Analyses Of Admixed Individuals Reveal Unrecognized Genetic Ancestry Components In Argentina

  Study the sub-continental origins of African, European and Native American genetic ancestries of Argentinean populations.

  Study EGAS00001004492

• HCA_Thymus_Paediatric_CZI_Spatial

  Spatial transcriptome analysis of thymic cells from children with syndromic diseases such as Trisomy 21 and inflammatory/autoimmune diseases such as myasthenia gravis.

  Study EGAS00001006156

• The University of Hong Kong Gastric Cancer XClone Study Single Cell CNV Data

  Single cell encapsulation and DNA libraries were prepared by Chromium™ Single Cell DNA Reagent Kits and Chromium™ Single Cell C and D Chip Kits.

  Dataset EGAD00001015383

• The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers

  WES and clonality characterization of different timepoints in HER2-negative primary breast cancers receiving neoadjuvant eribulin therapy.

  Study EGAS00001004953

• Single cell whole genome sequencing of primary and metastatic samples with Direct Library Preparation (DLP+)

  Single cell whole genome sequencing of primary and metastatic samples with Direct Library Preparation (DLP+)

  Study EGAS00001007912

• RNA sequencing of AML with 3q26 rearrangements

  RNA sequencing of 44 AML cases with diverse 3q26 rearrangements. This dataset is complementary to EGAD00001000726 (which only contains t(3;3)/inv(3)) and to EGAD00001006123.

  Dataset EGAD00001015629

• Dataset for atypical teratoid rhabdoid tumors transcriptome sequencing

  This dataset contains transcriptome sequencing for 12 samples from atypical teratoid rhabdoid tumors (ATRTs). The sequencing was performed on Illumina HiSeq 4000. The sequencing was always paired.

  Dataset EGAD00001015542

• Germline BAMs from patients with both uveal and cutaneous melanoma

  Germline BAMs from blood/saliva samples from patients diagnosed with both uveal and cutaneous patients. Reads have been aligned, deduplicated and recalibrated.

  Dataset EGAD00001011676

• LBC1921 bam files

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

  Dataset EGAD00001011667