Study
RNA Seq in Patients with Primordial Dwarfism
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000283 | Transcriptome Analysis |
Study Description
Transcriptome studies in patients with rare genetic diseases can potentially aid in theinterpretation of likely causal genetic variation through identification of altered transcriptabundance and/or structure. RNA-Seq is the most sensitive assay for both investigatingtranscript structure and abundanceThe primary aim of this pilot project is to investigate to what degree integrating exome-Seqand RNA-Seq data on the same individual can accelerate the identification of causal allelesfor rare genetic diseases. There are two main strands to this: (i) identifying which variantsdiscovered in exome-seq appear to be having a functional impact on transcripts, and (ii)identifying transcript outliers, especially among known causal genes, that may not necessarilyhave a causal variant identified from exome sequencing. The latter may identify the presenceof causal variants that lie far from coding regions (e.g. the formation of cryptic splice sitesdeep within introns, or loss of long range regulatory elements), which can be confirmed withfurther targeted genetic assays. Just over 50% of all ... (Show More)
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001000640 |
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 |
Who archives the data?
