bam cram epigenomics fastq genetic genomic life sciences transcriptomics whole genome sequencing
The human brain comprises hundreds of epigenomically distinct cell types whose identity is governed by DNA methylation and the three-dimensional folding of the genome, yet these two regulatory layers have rarely been measured jointly across its full anatomical breadth. While transcriptomic censuses have resolved the cellular diversity of the human brain and single-cell methylation and 3D-genome atlases have been generated for the whole mouse brain, a comprehensive joint methylome and 3D-genome atlas of the entire human brain, including subcortical, cerebellar, and brainstem structures that remain underrepresented in existing resources, has been lacking. This gap limits the functional interpretation of non-coding risk variants for neurological and psychiatric disorders, which requires maps that assign regulatory elements to specific cell types, resolve the enhancer-promoter contacts through which distal variants act, and situate these features within disease-relevant anatomical regions. Here we present a multimodal single-cell epigenomic and 3D-genome atlas of the whole human brain, using single-nucleus methyl-3C sequencing (snm3C-seq) to simultaneously profile DNA methylation and chromatin conformation across 12 adult donors. Harmonized to the [HMBA/BICAN] consensus taxonomy and integrated with matched RNA-seq, ATAC-seq, histone-modification, and MERFISH spatial data, this atlas provides a foundational framework for interpreting non-coding genetic variation and for dissecting the cell-type-specific regulatory basis of human brain function and disease.
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https://github.com/DingWB/human_brain_snm3C-seq
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Human Brain snm3C-seq was accessed on DATE from https://registry.opendata.aws/salk-human-brain-snm3c-seq.
arn:aws:s3:::salk-human-brain-snm3c-sequs-west-2aws s3 ls --no-sign-request s3://salk-human-brain-snm3c-seq/arn:aws:sns:us-west-2:855738613743:salk-human-brain-snm3c-seq-updatesus-west-2