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Title: Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong      
dateReleased:
01-01-2014
description:
The project aim is to evaluate the role of whole-genome aCGH for prenatal diagnosis in Hong Kong. Array CGH was performed on 220 samples recruited prospectively as the first-tier test study; and on 150 samples with abnormal ultrasound findings and normal karyotypes as a further-test study using NimbleGen CGX-135K oligonucleotide arrays. After the exclusion of common aneuploidies in the first-tier study, clinically significant CNVs are detected in 23/220 samples. In the further test study, clinically significant CNVs are detected in 9/150 samples, which showed CGX array has an increased diagnostic yield of about 6% compared with conventional cytogenetic methods. CNVs of unclear clinical significance are detected in only 10/370 (2.7%) samples. Only data from sample with positive findings are included in this experiment submission (the samples with normal results are not included here).
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-MTAB-2156
refinement:
raw
keywords:
functional genomics
dateModified:
06-03-2014
availability:
available
types:
gene expression
name:
Homo sapiens
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-2156/E-MTAB-2156.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-2156/E-MTAB-2156.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress
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