Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Familial Exome Sequencing in Rare Pediatric Phenotypes

ABSTRACT:

To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.

PROVIDER: phs000553.v1.p1 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Familial Exome Sequencing in Rare Pediatric Phenotypes

Project description:<p>To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.</p>

| phs000553 | dbGaP

Familial exome sequencing in rare pediatric phenotypes

Project description:Familial exome sequencing in rare pediatric phenotypes

| PRJNA177191 | ENA

Transcription profiling of mouse CD4 cells isolated from an ENU induced mutant Sanroque vs. wildtype

Project description:Male C57BL/6 mice were treated with ENU to generate single base substitutions, the variant genome sequences were breed to homozygosity in inbreeding pedigrees, and screened for antinuclear autoantibodies (ANA). The sanroque pedigree contained multiple progeny with ANA of mixed homogeneous nuclear and cytoplasmic immunofluorescence pattern by 12 weeks of age, due to an autosomal recessive gene variant. Comparison of the gene expression profile of CD4 cells from Sanroque to wild type was performed.

2008-06-12 | E-GEOD-2376 | biostudies-arrayexpress

To compare expression profiles of CD4 cells isolated from an ENU induced mouse mutant Sanroque to wildtype

2005-12-31 | GSE2376 | GEO

A mechanistic classification of clinical phenotypes in neuroblastoma

Project description:A mechanistic classification of clinical phenotypes in neuroblastoma

| PRJNA493612 | ENA

NOTCH3 missense variants cause familial partial lipodystrophy

Project description:Molecular defects in some ultra-rare subtypes of familial lipodystrophies remain unidentified. We identified novel NOTCH3 heterozygous variants in familial partial lipodystrophy (FPL) pedigrees. All variants were clustered in the heterodimerization domain of the negative regulatory region of NOTCH3. Proteomics of skin fibroblasts revealed significantly higher RNA expression of NOTCH3 and activation of widespread senescence pathways in the FPL patients versus controls.

2024-10-28 | MSV000096235 | MassIVE

Pedigreed Primate Embryonic Stem Cells Express Homogeneous Familial Gene Profiles

Project description:Pedigreed primate ESCs display homogeneous and reliable expression profiles. These similarities to mouse ESCs suggest that heterogeneities found among hESCs result from their disparate origins rather than intrinsic biological limitations with primate embryonic stem cells. Keywords: different nhpESC lines RNA extraction was performed from 10 nhpESC and hybridization on Affymetrix microarrays. To determine whether primate ESCs have intrinsic biological limitations compared with mouse ESCs [mESCs], we examined expression profiles and pluripotency of newly established pedigreed non-human primate ESC (nhpESCs). Ten pedigreed nhpESCs, seven full-siblings (fraternal quadruplets and fraternal triplets) and nine half-siblings were derived from 41 rhesus embryos Information about pedigrees may be found in Pedigree_Attributes.xls.

2008-04-14 | E-GEOD-7534 | biostudies-arrayexpress

Phenotype-directed analysis of genotype in early-onset, familial breast cancers using arrayCGH

Project description:Summary: Considerable heterogeneity of morphology and disease outcome exists within breast cancers (BC), which likely reflects variable molecular pathogeneses within this broad clinical group. Aim: To evaluate the underlying genomic alterations associated with familial, early-onset BC (EOBC) phenotypes, in order to improve the management of this disease. Methods: Using hierarchical clustering of morphological and immunophenotypical parameters, 116 EOBC were stratified into six groups. Conventional and array-based comparative genomic hybridisation was used to analyse the genomic alterations. Results: Specific areas of genomic imbalance were associated with individual phenotypes. The largest phenotypical group was high grade, oestrogen receptor and HER-2 negative. This group contained the majority of BRCA1 germline mutation-associated tumours and commonly showed loss of chromosomal regions 5cent-5q13, 5q14–22 and 4q28–32. High mitotic rate, an important indicator of tumour cell proliferation and poor prognosis, was associated with gain of 19p, mapped within 7 Mb of the telomere. This region contains the candidate oncogene CDC34, the protein product of which is involved in ubiquitin-mediated degradation of the cyclin-dependent kinase inhibitor, p27Kip1. Conclusion: Phenotype-based analysis can be used to determine the genetic changes important in subtypes of BC. Further, the different morphological phenotypes could act as a cost-effective surrogate for genotypical stratification to facilitate optimal management of this disease. Keywords: comparative genomic hybridisation, breast cancer, aCGH

2007-10-23 | GSE7408 | GEO

Custom array CGH validation of de novo CNVs in CEU HapMap samples

Project description:This is the validation data for candidate de novo CNV calls made in the CEU Hapmap by Itsara et al., Genome Research 2010. In this study, de novo CNV calls were initially made with Illumina 1M SNP arrays. Validation of CNV calls was performed with Nimblegen custom array CGH using the extended CEPH pedigrees. A truly de novo CNV would be unobserved in the first generation (CEU trio parents), validated in the second generation (CEU trio children), and assuming no selective effects, transmitted to approximately half of the individuals in the third generation. We attempted validation of 4 de novo CNVs in 3 extended CEPH pedigrees: 1358, 1408, and 1459. 12 samples were hybridized in each of the three pedigrees (36 samples total) against a previously well-characterized reference (GM15510; see Tuzun et al., Nat Genet 2005).

2010-09-01 | E-GEOD-23575 | biostudies-arrayexpress

Heritability of alternative splicing in the human genome

Project description:Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To investigate the variation in splicing among humans on a genomewide scale, we use a comprehensive exon-targeted microarray to examine alternative splicing in lymphoblasts derived from the CEPH HapMap population. We show the identification of transcripts containing annotated and novel sequence verified exon skipping, intron retention, and cryptic splice site usage that are specific between individuals. Using family-based linkage analysis, we demonstrate Mendelian inheritance and segregation of specific splice isoforms with regulatory haplotypes for three genes. Allelic association was further used to identify individual SNPs or regulatory haplotype blocks linked to the alternative splicing event, taking advantage of the high-resolution genotype information from the CEPH HapMap population. Keywords: Comparative genomic hybridiation within a 3 generation pedigree We used 14 individuals from the 3 generation CEPH/UTAH 1444 pedigree for our analysis of looking at heritability of differentially spliced exons within the family. 3 biological growths of individuals NA12739, NA12740, NA12750, and NA12751 were used and a single biological growth for the remaining 10 individuals.

2007-08-07 | E-GEOD-7952 | biostudies-arrayexpress

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