Corpus 1,273 assessed · 1,174 scored · 643 reproduced ≥75 · 169 flagged ·∅ 74.1/100
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GSE124903

GEO first seen 2019

mSWI/SNF functional genomic characterization of SMARCB1 mutants in SMARCB1-null and heterozygous settings

Organism
Homo sapiens
Samples
102
Type
Expression profiling by high...
Submitted
2019-01-10

Chromatin remodeling complexes regulate gene expression by shifting, evicting, and exchanging nucleosomes along the chromosomes of eukaryotic organisms. The mammalian SWI/SNF chromatin remodeling complex (mSWI/SNF or BAF) is mutated in over 20% of human cancers and loss of the SMARCB1 gene, encoding the BAF47 protein subunit, results in one of the most aggressive and lethal pediatric cancers. An accumulation of point mutations occurs at the C-terminal end of the protein, for which the functiona...

Provenance — who produced it, who reused it

Linked to 2 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.

Deposited / produced by
Alfredo M ValenciaClayton K CollingsCigall Kadoch
Reused by

1 further paper cites this accession but reuse could not be confirmed.

Deep data QC

metadata only · no data-level QC for this type

Standardized, field-standard QC computed by touching the data — every metric states how it was obtained

Data type / assay
ATAC-seq
Organism
Homo sapiens
Instrument
Illumina NovaSeq 6000
Platform
ILLUMINA
Read type
short-read
Files available
FASTQ (raw reads)
N numbers (samples, groups)
102 / 102 runs
Completeness
100%
Metrics (value · how obtained)
checksum ok yes reported
total bases 408352842838 reported
total reads 5093543421 reported
supplementary file types BW reported
QC cost 8 s compute

measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently