Project description:We describe a multiple de novo CNV (MdnCNV) phenomenon in which individuals with genomic disorders carry five to ten constitutional de novo CNVs. Five such families are studied, which consists of four trios and one singleton. Various array platforms are used to interogate these families to identify de novo CNVs.

2016-10-14 | GSE87913 | GEO

Individuals with excess numbers of germline de novo CNVs [NimbleGen]

2016-10-14 | GSE87909 | GEO

Individuals with excess numbers of germline de novo CNVs [Illumina]

2016-10-14 | GSE87838 | GEO

Individuals with excess numbers of germline de novo CNVs [Affymetrix]

2016-10-14 | GSE87802 | GEO

Custom array CGH validation of de novo CNVs in asthma samples

Project description:This is the validation data for candidate de novo CNV calls made in the asthma trios by Itsara et al., Genome Research 2010. In this study, de novo CNV calls in the asthma data set were initially made with Illumina 550K SNP arrays. Validation was performed with custom Nimblegen array CGH for which DNA was available. de novo CNVs would be expected to validate in the child of each trio tested, and not be detected in either parent. We attempted to validate 9 de novo CNVs in the same number of trios. In 3 cases, paternal DNA was not available leaving a total of 24 distinct samples for hybridization. All samples were hybridized against a previously well-characterized reference (NA15510; see Tuzun et al., Nat Genet 2005).

2010-09-01 | E-GEOD-23572 | biostudies-arrayexpress

Detection of de novo and homozygous copy number variants in 99 autism simplex trios

Project description:Comparison of whole genome exome array CGH to a commercial SNP array for detection of de novo and homozygous copy number variants in 99 autism simplex trios. Will update once manuscript is prepared.

2011-04-30 | GSE23765 | GEO

De novo mutations disturb early brain development more frequently than common variants in schizophrenia.

Project description: Not available

| S-EPMC11270591 | biostudies-literature