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Characterization of cell types, positional codes, and enhancers contributing to human facial individuality and pathology

Human genetic diversity generates an astonishing variety of facial shapes, and craniofacial anomalies rank among the most common birth defects. This study generated a multimodal atlas of human embryonic craniofacial development across embryonic weeks 6–11, including single-cell transcriptomics, chromatin accessibility, and spatial transcriptomics. The dataset characterizes cell states, mesenchymal subtypes, and their gene-enhancer cis-regulatory landscapes in space and time. These data provide a resource for studying normal human facial development, craniofacial abnormalities, and the genetic mechanisms underlying facial individuality.

Type: RNASeq
Archive: European Genome-phenome Archive (EGA)

1 Dataset

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002884	This dataset contains raw sequencing data from 66 human embryonic craniofacial samples collected between embryonic weeks 6 and 11. The dataset includes single-cell RNA sequencing (scRNA-seq), single-cell ATAC sequencing (scATAC-seq), Multiome (RNA+ATAC), Stereo-seq, and 10x Visium spatial transcriptomics generated using Illumina sequencing platforms. Raw FASTQ files and associated metadata are available through controlled access via the European Genome-phenome Archive (EGA).	Illumina NovaSeq 6000	66