Rescue of Fragile X syndrome neurons by DNA methylation editing of the FMR1 gene [RNA-seq]
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in male, is caused by silencing of the FMR1 gene by hypermethylation of the CGG expansion mutation in the 5’UTR region of FMR1 in FXS patients. Here, we applied recently developed DNA methylation editing tools to reverse this hypermethylation event. Targeted demethylation of the CGG expansion by dCas9-Tet1/sgRNA switched the heterochromatin status of the upstream FMR1 promoter to an active chromatin state restoring...
Provenance — who produced it, who reused it
Linked to 1 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.
Deep data QC
99/100 · AStandardized, field-standard QC computed by touching the data — every metric states how it was obtained · evidence: measured
Bulk RNA-seq of Homo sapiens with unavailable platform information (HTTP error), but exceptional quality metrics (96.9% Q30, 40 bp read length, 0.013% N content). This dataset enables human gene expression studies with minimal contamination. The short read length and high quality suggest optimized single-index libraries for cost-effective human transcriptome profiling.
The A grade is a transparent weighted average. Each metric below scored from 0–100% against the published bulk-RNA-seq thresholds, weighted by its importance; nothing is hidden or subjective.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0