Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Exome sequencing identified mutations in clpex mouse mutants

ABSTRACT: Exome sequencing identified mutations in clpex mouse mutants

PROVIDER: PRJNA545319 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Exome sequencing identified mutations in clpex mouse mutants

Project description:3 mutants from the clpex mouse mutant line were exome sequenced to identify candidate causal variants.

2019-05-30 | GSE131920 | GEO

Exome mutations in mouse LMP1 Lymphomas

Project description:10 LMP1 expressing mouse lymphomas were sorted and sequenced for exome mutations

2020-06-02 | GSE136073 | GEO

Exome sequencing of a panel of breast cancer cell lines to identify mutations

Project description:This information was used to identify mutations associated with particular breast cancer subtypes, as well as associations with response to therapy. 75 breast cancer cell lines underwent exome sequencing to identify mutations.

2013-08-20 | E-GEOD-48215 | biostudies-arrayexpress

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

Project description:With the whole genome SNP array information obtained from tumor and matched normal control, we could evaluate the acquired copy number alterations (CNAs) and uniparental disomies (UPDs) . Here we identified somatic mutations by whole-exome sequencing in 25 NKTCL patients and extended validation through targeted sequencing in an additional 80 cases.

2015-05-29 | GSE69382 | GEO

Exome mutations in mouse LMP1 Lymphomas

Project description:Exome mutations in mouse LMP1 Lymphomas

| PRJNA561167 | ENA

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

Project description:Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. Further analyses showed that BCOR mutations occurred in 11/262 (4.2%) CN-AML cases and represented a substantial fraction (14/82, 17.1%) of CN-AML patients showing the same genetic background as the index patient subjected to WES. BCOR somatic mutations were: i) disruptive events similar to germline BCOR mutations causing the oculo-cranio-facial-dental (OCFD) genetic syndrome; ii) associated with markedly decreased BCOR mRNA levels, absence of full-length BCOR and absent or low expression of a truncated BCOR protein; iii) almost mutually exclusive with NPM1 mutations and frequently associated with DNMT3A and RUNX1 mutations, pointing to a cooperation between these events. Finally, BCOR mutations correlated with poor outcome among a cohort of 160 CN-AML patients (28% versus 66% overall survival at 2 yrs, P=0.024). Our results implicate for the first time BCOR in the pathogenesis of CN-AML without NPM1 mutations. AML samples with normal karyotype were studied. Molecular analyses were performed for BCOR mutations. 12 BCOR wild-type cases and 12 BCOR mutated cases were hybridized to gene expression micro-arrays.

2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

2011-12-16 | GSE30442 | GEO

Genotyping by whole-exome sequencing of human with hereditary pheochromocytoma

Project description:Whole exome sequencing identification of Max mutations and further validation in pheochromocytoma patients

2012-03-01 | E-MTAB-591 | biostudies-arrayexpress

Whole Exome Sequencing of two non-obstructive azoospermia patients

Project description:We collected blood samples of two non-obstructive azoospermia patients, and performed whole exome sequencing to explore the causal mutations for male infertility.

2021-06-22 | E-MTAB-9287 | biostudies-arrayexpress

Whole exome sequencing of human primary uveal melanomas

Project description:Primary uveal melanomas show multiple genetic alterations. To determine mutational status of six human primary uveal melanomas, we performed whole exome sequencing (WES) and called Single Nucleotide Polimorphism (SNPs) to identify somatic mutations in these human primary uveal melanomas.

2021-01-25 | GSE138664 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

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