Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Genetic variation in Chinese patients with post-stroke depression

ABSTRACT: An investigation into a sub set of genetic variation in Chinese patients with post-stroke depression

INSTRUMENT(S): AB 3730xl

ORGANISM(S): Homo Sapiens

SUBMITTER: Nation Clinical Research for Geriatric Disorders, Xiangya Hospital, Central South University

PROVIDER: PRJEB56038 | EVA | 2022-09-20

REPOSITORIES: EVA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SNP.vcf.csi	Other
	SNP.vcf.gz	Vcf
	SNP.vcf.gz.csi	Vcf

Items per page:

1 - 3 of 3

Similar Datasets

Expression profiles in PCa And BPH from Chinese patients

Project description:This SuperSeries is composed of the following subset Series: GSE28204: mRNA expression profile in PCa And BPH from Chinese patients GSE34932: miRNA expression profile in PCa And BPH tissue from Chinese patients Refer to individual Series

2012-02-28 | E-GEOD-34933 | biostudies-arrayexpress

Investigation of cattle genetic variants

Project description:An investigation into a sub set of cattle genetic variantion

| PRJEB75603 | ENA

Mapping of Hepatic Expression Quantitative Trait Loci (eQTLs) in a Han Chinese Population [Expression analysis]

Project description:Elucidating the genetic basis underlying the variation in hepatic gene expression is of importance to understand disease etiology and drug metabolism variances. To date, no genome-wide eQTL analysis has been conducted in the Han Chinese, the largest ethnic group in the world. We performed a genome-wide eQTL mapping in a set of Han Chinese liver tissue (n=64).

2015-01-02 | GSE53791 | GEO

Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population [SNP analysis]

2015-01-02 | GSE53790 | GEO

Genome-Wide Copy Number Variation Analysis of Chinese Patients with Intellectual Disability

Project description:Objective: Intellectual disability (ID) is often sporadic, and its complex etiology can make clinical diagnosis difficult. The aims of this study were to detect genomic copy number variations (CNVs) in Chinese patients with ID, and to analyze the correlation between pathogenic CNVs and clinical phenotypes. Methods: After excluding cases of ID caused by chromosomal aneuploidy, metabolic dysfunction, or environmental factors, we enrolled 60 patients with moderate to severe ID. We performed karyotype and single-nucleotide polymorphism (SNP) array analyses for all patients. Finally, we analyzed the relationship between CNVs and phenotype using CNV databases and genotype-phenotype comparisons. Results: Karyotype analysis showed chromosomal terminal abnormalities in five patients and balanced translocations in two patients. Using SNP array analysis for 60 patients, we detected 87 CNVs in 45 patients, which included 16 pathogenic CNVs in 12 patients with a diagnostic yield of 20.0% (12/60). In one patient, we observed 14 regions of homozygosity > 10 Mb to 266 Mb. We detected a large deletion at 16q22.2 or 3q24q25 in each of two patients, in regions that have not previously been associated with specific syndromes. One case carried a 210-kb deletion at 1q21, including only one coding gene, LPPR4, which may be a candidate gene for the ID phenotype. Conclusions: Use of the genome-wide array screening method can improve the detection rate of CNVs, reveal chromosomal abnormalities that have not been well characterized by cytology, and provide a new way to locate genes for patients with the ID phenotype. However, interpretation of CNVs remains a major challenge, which is why we believe that publicly shared data on CNVs and phenotypes can create a rich database of information.

2019-06-15 | GSE83414 | GEO

Microarray profiling for differential gene expression in PSMG-hCG stimulated pre-ovulatory ovarian follicles of Chinese Erhualian and Large White sows

2011-12-31 | GSE23985 | GEO

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder - implications of a copy number variation involving dpp10 (CGX-12)

Project description:Background: Array-Comparative-Genomic-Hybridization (aCGH) is recommended as first-tier genetic test for children with autism spectrum disorder (ASD). However, result interpretation can be challenging as copy number variants (CNVs) in non-European ASD patients is not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. Methods DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. Results: Ten pathogenic and one likely-pathogenic CNVs were found in nine patients, with an overall diagnostic yield of 3.5%. A 138kb duplication involving 3â exons of DPP10 (hg[19]chr2:116534689-116672358), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of unknown significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified amongst our ancestry-matched control with frequency of 6/653 (0.92%) as well as from literature and genomic databases. Conclusions: DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

2017-04-07 | E-MTAB-5665 | biostudies-arrayexpress

Microarray profiling for differential gene expression in PSMG-hCG stimulated pre-ovulatory ovarian follicles of Chinese Erhualian and Large White sows

Project description:The Chinese Erhualian is one of the most prolific pig breeds in the world, which farrows at least five more piglets per litter than Western pig breeds partly due to a greater ovulation rate. Differences in the transcriptome of Chinese Erhualian and Large White ovaries directly result in variation of ovulation rate. To understand the molecular basis related to ovulation rate in Chinese indigenous and Western breeds, samples were collected and used to hybridized. This study reveals many potential avenues of investigation for seeking new insights into ovarian physiology and the genetic control of reproduction. Expression profiling experiments were conducted to identify differentially expressed genes in ovarian follicles at the preovulatory stage of a PMSG-hCG stimulated estrous cycle from 3 Chinese Erhualian and 3 Large White cycling sows by using the Affymetrix Porcine Genechip™.

2011-12-31 | E-GEOD-23985 | biostudies-arrayexpress

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder - implications of a copy number variation involving dpp10 (Perkin Elmer CGX)

Project description:Background Array-Comparative-Genomic-Hybridization (aCGH) is recommended as first-tier genetic test for children with autism spectrum disorder (ASD). However, result interpretation can be challenging as copy number variants (CNVs) in non-European ASD patients is not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. Methods DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. Results Ten pathogenic and one likely-pathogenic CNVs were found in nine patients, with an overall diagnostic yield of 3.5%. A 138kb duplication involving 3â exons of DPP10 (hg[19]chr2:116534689-116672358), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of unknown significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified amongst our ancestry-matched control with frequency of 6/653 (0.92%) as well as from literature and genomic databases. Conclusions DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

2017-04-07 | E-MTAB-5672 | biostudies-arrayexpress

Identification of copy number variation using aCGH in Chinese chicken breeds

Project description:CNV plays an important role in the chicken genomic studies,it is imperative need to investigate the extent and pattern of CNVs using array comparative genomic hybridization (aCGH) in chinese chicken breeds for future studies associating phenotype to genome architecture. we describe systematic and genome-wide analysis of CNVs loci in five Chinese indigenous chicken breeds were evaluated by aCGH. 5 Chinese native chicken were detected using ANKA broiler as reference.

2014-10-10 | E-GEOD-49889 | 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