Omics · study · 2026
Processed SNP array–based SMN1 exon 7 and exon 8 copy number estimates from a large clinical carrier screening cohort
Listed in NCBI GEO
This dataset contains de identified, processed copy number estimates for SMN1 exon 7 and exon 8 derived from the Thermo Fisher CarrierScan 1S SNP array platform.
Description
Data were generated as part of a large retrospective clinical carrier screening study evaluating SMN1 deletion patterns and characterizing the relative frequencies of hybrid versus contiguous deletion alleles. Only processed CNV values are deposited; raw array intensities and probe level annotation files are proprietary to Thermo Fisher Scientific and cannot be publicly distributed.
The processed values deposited here represent all data necessary to reproduce the analyses presented in the associated manuscript.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE326nnn/GSE326151 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE326151 ↗
landing page · from NCBI GEO
Documentation and papers
- PubMed 42251298 pubmed.ncbi.nlm.nih.gov/42251298 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Genome variation profiling by SNP array · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Genetics 73%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE326151 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].anzsrc:group:3105 | enrichment · NCBI GEO | taxonomy-embedding@1.1.0 | title+keywords+description (73%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:genome-variation-profiling-by-snp-array | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |