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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

GSE254090 Mus musculus Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing 87 samples Submitted 2024/08/06 Platform GPL19057Platform GPL21103Platform GPL17021
SuperSeries — this record groups several sub-series.
Summary
This SuperSeries is composed of the SubSeries listed below.
Published in
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Lee AS, Ayers LJ, Kosicki M et al. · Nature communications 2024 · PMID 39333082 · doi:10.1038/s41467-024-52463-7
This dataset
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Direct links to NCBI, no account and no request form: the whole study as GSE254090_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 87 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1068528 and SRA study SRP485683. Searching any of these in the dataset finder brings you back here.

Study design
10 conditions, mostly in duplicate
CN7_e10.5 ×3 CN7_e11.5 ×2 CN7neg_e11.5 ×2 SMN_e10.5 ×2 SMN_e11.5 ×2 bulkRNA_cMN6_Hb9-pos_E11-5A ×2 CN34_e10.5 ×2 CN34_e11.5 ×2 +21 more

Supports a between-group comparison across 21 samples.

10 replicated groups read from the first 40 of 87 sample titles; they account for 21 of them. Check it against the sample list below before relying on it.

Samples in this study

+ 47 more — browse all 87 samples with per-sample file links →

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