Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: Whole exome sequencing of SYM1 case

PROVIDER: PRJNA526907 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR8723462_1.fastq.gz	Fastqsanger.gz
	SRR8723462_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

Genetically defined syngeneic mouse models of ovarian cancer as tools for the discovery of combination immunotherapy (Exome)

Project description:Purpose: There are three goals of this study: 1. To compare the genomic, exome and chromatin accessiblity profiles of the specific engineered fallopian tube cells of high-grade serous tubo-ovarian cancer (HGSC) models (this study) using whole-exome, whole-genome and ATAC-seq sequencing. Methods: For whole-exome analysis, genomic DNA was extracted from the cell lines mentioned below. Conclusions: We conclude that whole-exome, whole-genome and ATAC-seq characterization would expedite genetic network analyses and permit the dissection of complex biological functions.

2020-11-17 | GSE159253 | GEO

Chondrosarcoma Validation Study

Project description:Agilent whole exome hybridisation capture was performed on genomic DNA derived from Chondrosarcoma cancer and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products.

2016-05-17 | E-ERAD-37 | biostudies-arrayexpress

Heterogeneous immune and tumor clonal evolution patterns in liver cancer

Project description:Paired end whole exome sequencing for patient 10, matched normal and tumor

2020-02-01 | E-MTAB-8127 | biostudies-arrayexpress

Genomic landscape of carcinogen induced mouse skin squamous cell carcinoma: whole-exome sequencing

Project description:Whole-exome sequencing of induced murine squamous cell carcinoma. 26 samples are included.

2014-09-11 | E-MTAB-2887 | biostudies-arrayexpress

Whole exome sequencing of Cervical Squamous samples

Project description:The raw data consist of whole exome sequencing data of cervical squamous samples

2022-02-11 | E-MTAB-11407 | biostudies-arrayexpress

Generation of matched patient-derived xenograft in vitro-in vivo models using 3D macroporous hydrogels for the study of liver cancer [WES]

Project description:Whole exome sequencing of matched patient-derived xenograft in vitro-in vivo models.

2018-01-31 | GSE109954 | GEO

Whole exome sequencing suggests much of non BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

Project description:Whole exome sequencing identification of putative founder mutations in non-BRCA1/2 breast cancer patients

2013-08-08 | E-MTAB-1172 | biostudies-arrayexpress

Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

Project description:Whole exome sequencing (WES) files of a patient suffering from a combined immunodeficiency, and his parents.

2014-10-31 | E-MTAB-2962 | biostudies-arrayexpress

MM in murine models: WES

Project description:Characterization of the mutational landscape of the 5T murine models for multiple myeloma, by whole-exome sequencing.

2018-10-09 | E-MTAB-5282 | biostudies-arrayexpress

A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing

Project description:Effective molecular diagnosis of congenital diseases hinges on comprehensive genomic analysis, traditionally reliant on various methodologies specific to each variant type — whole exome or genome sequencing for single nucleotide variants (SNVs), array CGH for copy-number variants (CNVs), and microscopy for structural variants (SVs). We introduce a novel, integrative approach combining exome sequencing with chromosome conformation capture, termed Exo-C. This method enables the concurrent identification of SNVs in clinically relevant genes and SVs across the genome and allows analysis of heterozygous and mosaic carriers. Enhanced with targeted long-read sequencing, Exo-C evolves into a cost-efficient solution capable of resolving complex SVs at base-pair accuracy. Through several case studies, we demonstrate how Exo-C's multifaceted application can effectively uncover diverse causative variants and elucidate disease mechanisms in patients with rare disorders.

2024-01-24 | GSE253950 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data