遇见数据集

Human-mouse syntenic Long Range Interactions in Neural Stem Cells

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Zenodo2022-08-03 更新2026-05-25 收录
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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 <em>de novo</em> 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.<br> 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.

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Zenodo
创建时间:
2022-07-18
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