RNA Seq in Patients with Primordial Dwarfism
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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Transcriptome studies in patients with rare genetic diseases can potentially aid in the interpretation of likely causal genetic variation through identification of altered transcript abundance and/or structure. RNA-Seq is the most sensitive assay for both investigating transcript structure and abundance The primary aim of this pilot project is to investigate to what degree integrating exome-Seq and RNA-Seq data on the same individual can accelerate the identification of causal alleles for rare ... (Show More)
|Illumina HiSeq 2000||24|