Transcriptomic profiling of RIRCD patient skeletal muscle, comparing muscle during affected phase to healthy control, and affected patient with and without additional EARS2 mutations.
Illumina Nextseq total RNA sequencing profiles of skeletal muscle biopsies of 5 affected patients (F3/2M, F4/1F, F5/1M, F2/2F, F2/1M) compared to 6 control (Control040500, Control3509, Control3934, Control3949, Control4994, Control5106) and comparing 3 patients with additional EARS2 mutations (F2/2F, F2/1M, F5/1M) to 2 patients without (F3/2M, F4/1F). Illumina MiSeq total RNA sequencing profiles of skeletal muscle biopsies from patient F3/1M during affected disease phase (4 replicates: F3-1M_Affected_1, F3-1M_Affected_2, F3-1M_Affected_3, F3-1M_Affected_4) compared to recovered phase (F3-1M_Recovered_1, F3-1M_Recovered_2, F3-1M_Recovered_3, F3-1M_Recovered_4).
- 10 samples
- DAC: EGAC00001001724
- Technology: NextSeq 550
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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
Study ID | Study Title | Study Type |
---|---|---|
EGAS00001004647 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
ID | File Type | Size | Located in | |
---|---|---|---|---|
EGAF00004671609 | fastq.gz | 1.4 GB | ||
EGAF00004671610 | fastq.gz | 1.4 GB | ||
EGAF00004671611 | fastq.gz | 1.3 GB | ||
EGAF00004671612 | fastq.gz | 1.3 GB | ||
EGAF00004671613 | fastq.gz | 1.4 GB | ||
EGAF00004671614 | fastq.gz | 1.5 GB | ||
EGAF00004671615 | fastq.gz | 1.2 GB | ||
EGAF00004671616 | fastq.gz | 1.3 GB | ||
EGAF00004671617 | fastq.gz | 1.1 GB | ||
EGAF00004671618 | fastq.gz | 1.1 GB | ||
EGAF00004671635 | fastq.gz | 840.6 MB | ||
EGAF00004671636 | fastq.gz | 875.2 MB | ||
EGAF00004671637 | fastq.gz | 790.1 MB | ||
EGAF00004671638 | fastq.gz | 833.4 MB | ||
EGAF00004671639 | fastq.gz | 847.1 MB | ||
EGAF00004671640 | fastq.gz | 896.7 MB | ||
EGAF00004671641 | fastq.gz | 768.2 MB | ||
EGAF00004671642 | fastq.gz | 1.1 GB | ||
EGAF00004671643 | fastq.gz | 823.1 MB | ||
EGAF00004671644 | fastq.gz | 874.6 MB | ||
20 Files (21.6 GB) |