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A framework for efficient CRISPRi-mediated silencing of retrotransposons in human pluripotent stem cells
onThis methods paper outlines silencing transposable elements in hiPSCs using CRISPRi. Describes gRNA design, validation via multiome approach. Enables functional studies on TE transcription in hiPSC models.
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Behavioral screening defines three molecular Parkinsonism subgroups in Drosophila
onWe created a new collection of 24 genetically well-controlled Drosophila models of familial forms of parkinsonism. Using unbiased behavioral screening and machine learning we identified three clusters of mutants that converge.
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PD5D long read DNA-seq
onThe dataset includes CCS corrected HiFi lrDNAseq in FASTQ format for 100 PMDBS samples from Parkinson's patients and controls. Part of PD5D atlas, subjects were also profiled with genotyping, single-cell ATACseq, and spatial transcriptomics.
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Release Notes – ASAP CRN Cloud – Version 4.0.0
onASAP CRN Cloud released version 4.0.0 with expanded datasets including Human Postmortem-derived Brain Sequencing and Mouse datasets. New collections and individual datasets were added, enhancing PMDBS and Mouse RNA sequencing data.
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PD5D midbrain single-nucleus RNA-seq hybrid selection
onDataset includes raw FASTQ files from midbrain snRNAseq with hybrid selection for PD5D samples. Subjects also analyzed with DNAseq, genotyping, single-cell ATACseq, and spatial transcriptomics.
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VariantAnalysis: Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease
onIntegrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease
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Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease
onLong-read sequencing in PD brain samples identified 74,552 structural variants. Integrating RNA sequencing data revealed SVs near PD-related genes impacting cell type-specific expression, highlighting the importance of SVs in complex diseases.
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Chromatin accessibility profiling (ATAC-seq) of human iPSC-derived midbrain astrocytes in ATP13A2 c.1306 deficiency models
onDataset includes ATAC-seq data comparing WT and ATP13A2 c.1306 mutants in human iPSC-derived midbrain astrocytes to study epigenomic landscape and genome-wide accessibility changes due to genotype.
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Transcriptomic profiling of human iPSC-derived midbrain astrocytes in ATP13A2 deficiency (c.1306) models
onDataset compares gene expression in WT and ATP13A2 c.1306 mutants in midbrain astrocytes to understand transcriptional effects on neuroinflammation and lysosome dysfunction linked to early-onset Parkinson's Disease.
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Code – bulkRNA-seq data from WT, ATP13A2 c.1306
onCode - bulkRNA-seq data from WT, ATP13A2 c.1306 related to "ATP13A2 Loss of Function-Driven Polyamine Dysregulation Induces SAM Depletion and Epigenetic Astrocyte Toxicity"