Identification of a DNA methylation signature in blood from subjects affected by Down syndrome
Down syndrome is characterized by a wide spectrum of clinical signs, which include cognitive and endocrine disorders and haematological abnormalities. Although it is well established that the causative defect of Down syndrome is the trisomy of chromosome 21, the molecular bases of Down syndrome phenotype are still largely unknown. We used the Infinium HumanMethylation450 BeadChip to investigate DNA methylation patterns in whole blood from 29 subjects affected by Down syndrome (DS), using their h...
Provenance — who produced it, who reused it
Linked to 14 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.
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Gen... 2019 · 205 cites
- DeepMAge: A Methylation Aging Clock Developed with Deep Learning 2021 · 158 cites
- Gene domain-specific DNA methylation episignatures highlight dis... 2019 · 128 cites
- Epigenetic dysregulation in the developing Down syndrome cortex 2016 · 96 cites
9 further papers cite this accession but reuse could not be confirmed.
Deep data QC
metadata only · no data-level QC for this typeStandardized, field-standard QC computed by touching the data — every metric states how it was obtained
No quantitative QC rubric exists for this data type yet, so it is deliberately left unscored — this is an honest "not applicable", not a poor rating.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently