GSM8033206[Accession] - GEO DataSets

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Items: 4

Select item 2002540901.

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

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Mus musculus

Type:: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing

Platforms:: GPL19057 GPL17021 GPL21103
87 Samples

Download data: BIGWIG, BW, RESULTS, TAR

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Accession:: GSE254090

ID:: 200254090

PubMed

Select item 2002540862.

Noncoding Mendelian epigenomics - single cell ATACseq mouse cMN data

(Submitter supplied) Although Mendelian disorders are overwhelmingly attributed to protein-coding pathogenic variants, a majority of unsolved cases do not harbor obvious causal pathogenic variants in the coding sequence, suggesting a potential non-coding etiology. However, classification of pathogenicity in non-coding sequence remains prohibitive due to a vastly increased search space and the lack of a standardized rubric for interpretation. more...