Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during childhood development
RNA-seq (gene expression) · human · 86 samples
- What it is
- RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
- Organism
- Homo sapiens (human)
- Samples
- 86 samples
- Data you can get
- A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Read the full summary ↓
Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.
Processed table
The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.
Supplementary files
The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE201255_RAW.tar (it can run to tens of gigabytes).
Raw sequencing reads
The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.
What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.
Also filed as BioProject PRJNA830511 and SRA study SRP371576. Searching any of these in the dataset finder brings you back here.
The sample list for this study is not cached yet. Press Load samples and it will be fetched from NCBI.
+ 86 more — browse all 86 samples with per-sample file links →
- GSE317529 MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy 15 samples shares congenital, dystrophy, myotonic
- GSE292819 Analysis of Muscle and Blood RNA Samples from Patients with Myotonic Dystrophy Type 1 Reveals the Presence of New Mis-Splicing Biomarkers of Disease Severity 66 samples shares dystrophy, myotonic
- GSE271896 Deep longitudinal immune profiling reveals reprogramming of memory T cells that links to B cell dysregulation with age 868 samples shares dysregulation
- GSE330022 Multidimensional Exposure Architecture Shapes Vaping-Associated Transcriptomic Dysregulation in Oral Epithelium 83 samples shares dysregulation
- GSE247416 Integrative genomic approach identifies glial transcriptomic dysregulation in the cortex of individuals with Alcohol Use Disorder 73 samples shares dysregulation
- GSE310998 Peripheral blood transcriptomics identifies cohesin–chromatin and immune dysregulation in tics and Tourette syndrome 48 samples shares dysregulation
- GSE319887 Friedreich’s ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis 43 samples shares dysregulation
- GSE260603 Dissecting depression symptoms: multi-omics clustering uncovers immune-related subgroups and cell-type specific dysregulation 273 samples shares dysregulation
Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.