Human-mouse syntenic Long Range Interactions in Neural Stem Cells

This repository contains the list of human DNA regions corresponding to long-range interactions in RNA polII-mediated long-range interactions in mouse. They are named human-mouse syntenic Long Range Interactions (hmsLRI) and were obtained via synteny from mouse neonatal forebrain stem cells. They were also annotated for their overlap with DNA sequence variants (SNPs; CNVs) associated with human neurodevelopmental disease (NDD). The lists of genes identified via inferred that are potentially involved in NDD, eye-development, and traits (schizophrenia, bipolar disorder, intelligence).

This is a resource for exploring the potential of the non-coding regions of DNA, the largest part of the genome (~98%), in NDD. Indeed, despite the numerous NDD-causative genes identified, only 42% of patients with severe developmental disorders carry pathogenic de novo mutations within coding sequences. More than a half of patient could be diagnosed and treated with further research and technologies, one option is studying the non-coding genome and how alterations affect genes.  

Tracks for visualization onto UCSC Genome Browser and WashU, are also provided.
See README for more details. 

The peer-reviewed publication for this dataset has now been published in International Journal of Molecular Science, available OA at: https://www.mdpi.com/1422-0067/23/14/7964. Please cite this when using the dataset.