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ABSTRACT: Transcriptome data of nuclear family carrying de novo CNV

PROVIDER: PRJNA626020 | ENA |

REPOSITORIES: ENA

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Dataset's files

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			Action	DRS
	SRR11564371.fastq.gz	Fastqsanger.gz
	SRR11564372.fastq.gz	Fastqsanger.gz
	SRR11564373.fastq.gz	Fastqsanger.gz
	SRR11564374.fastq.gz	Fastqsanger.gz
	SRR11564375.fastq.gz	Fastqsanger.gz

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Project description:Exome, transcriptome, 16S data of nuclear family carrying de novo CNV

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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.

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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).

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Affymetrix Mouse Diversity Genotyping Array Data for p53 deficient mice

Project description:We used an experimental mouse model to further evaluate whether constitutive p53 deficiency in the germ line may increase the rate of de novo CNV in the offspring. C57Bl6 mice with defined trp53 status (either +/+, +/- or -/-) were crossed with 129SvSL trp53+/+ mice and 129SvSL trp53-/- mice were crossed with C57Bl6 trp53+/+ mice. CNV were analyzed in DNA isolated from whole F1 embryos at 17.5 days and compared with liver DNA from their parents. One out of 36 embryo from trp53+/+ parents was detected to have a potential de novo CNV. No de novo CNV was detected in 84 embryos with a p53 deficient parent. These observations suggest that, in this mouse model, partial or complete deficiency of p53 function in the germ line does not increase the rate of CNV formation in the offspring.

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