Spatial and Functional Genomics Research Affinity Group

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Genome-wide association studies (GWAS) have implicated hundreds of genomic loci in the susceptibility to human disease, but most have failed to identify the precise causal variants or the culprit genes. A map of the three-dimensional, accessible structure of the genome in disease-relevant tissue could offer mechanistic insight into the genetic basis of disease. The Spatial and Functional Genomics Research Affinity Group focuses on finding new ways, including chromatin conformation capture methods and related techniques, to precisely identify functional variants and map them to their target genes.

The Spatial and Functional Genomics Research Affinity Group leaders have complimentary expertise in GWAS and functional studies related to the epigenetic and transcriptional regulation of disease. They have demonstrated a track record of productivity with respect to collaborative publications and have gained new insights about the genetics of common and complex diseases, specifically in relation to pediatrics.

Activities in various settings, both at the laboratory level but also at the bioinformatics stage, are fortified by the Spatial and Functional Genomics Research Affinity Group, which was established in 2015. The computational analysis expertise of the faculty members have transformed the affinity group’s 3D genomics efforts, which include three-dimensional chromosome conformation capture (SPATIaL-seq), CRISPR/CAS9 genome editing, ChIP-seq, ATAC-seq, and RNA-seq. This work is already establishing the transcriptional architecture of loci implicated in the genetic susceptibility to disease, and members of the Spatial and Functional Genomics Research Affinity Group are applying these approaches at the whole-genome level in multiple human primary cells and tissues.