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7 results for “CGG repeats”
CGG short tandem repeat genotype predictions
<p>As expansions of CGG short tandem repeats (STR) are established as the genetic aetiology of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spectrum disorder (ASD). By genotyping 6,063 CGG STR loci in a large cohort of trios and quads with an ASD-affected proband, we determined an unprecedented rate of CGG repeat length deviation across a single generation. While the concept of repeat length being linked to deviation rate was solidified, we demonstrate how shorter STRs display greater degrees of size variation. We observed that CGG STRs did not segregate by Mendelian principles, with a bias against longer repeats, which appeared to magnify as repeat length increased. Through logistic regression, we identified 19 genes that displayed significantly higher rates and degrees of CGG STR expansion within the ASD-affected probands (p < 1 x 10<sup>-5</sup>). This study not only highlights novel repeat expansions that may play a role in ASD but also reinforces the hypothesis that CGG STRs are specifically linked to human cognition.</p>
CGG, CAG, and GAA: genome-wide comparison of the disease linked Trinucleotide short tandem repeat
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CGG short tandem repeat genotype predictions
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The CGG triplet repeat binding protein 1 counteracts DNA secondary structure formation to prevent transcription-replication stress
GEO Series GSE244415. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing; Other.
Site-specific R-loop formation induces CGG repeat contraction and Fragile X gene reactivation
GEO Series GSE184580. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
A critical role of GABAergic neurons in driving CGG repeat toxicity associated with Fragile X Premutation Carriers
GEO Series GSE285979. Mus musculus. 72 samples. Type: Expression profiling by high throughput sequencing.
A critical role of GABAergic neurons in driving CGG repeat toxicity associated with Fragile X Premutation Carriers [scRNA-Seq]
GEO Series GSE286170. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.