Novel mutations target distinct subgroups of medulloblastoma.
Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. To identify mutations that drive medulloblastoma we sequenced the entire genomes of 37 tumours and matched normal blood. One hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma: several target distinct components of the epigenetic machinery...
Provenance — who produced it, who reused it
Linked to 21 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.
- MultiPLIER: A Transfer Learning Framework for Transcriptomics Re... 2019 · 138 cites
20 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
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently