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Study Description

This study of DNA and RNA sequencing of 5 parent-offspring trios is a single center study. The goal of this study is to characterize X chromosome inactivation (XCI) ratio in females using phased genomic variations obtained through whole genome or exome sequencing in trios, followed by allele-specific expression analysis of the phased, heterozygous alleles in the mRNA of the female offspring, and to apply this method to clinical diagnosis. The distribution of allele ratios across X obtained from mRNA sequencing allows for the estimation of X inactivation status of inherited X chromosomes, and the parameters of each parental allele distributions in the offspring's mRNA data can be used as determinants for XCI ratio. This approach was used to evaluate the contribution of skewed XCI ratio to phenotypic heterogeneity in an undiagnosed, mild neurological condition.

  • Study Type: Parent-Offspring Trios
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 424

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Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Total mRNA Sequencing Illumina TruSeq RNA Sample Prep Kit v2 N/A N/A
Whole Exome Sequencing Illumina TruSeq Exome Enrichment Kit N/A N/A
Whole Genome Sequencing Illumina TruSeq DNA PCR-Free Sample Preparation Kit N/A N/A
Whole Exome Sequencing Agilent SureSelect Human All Exon V4 N/A N/A
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Diseases/Traits Related to Study (MESH terms)
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Study Attribution