GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.

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Tác giả: Fengxiao Bu, Hui Cheng, Jing Cheng, Jia Geng, Wenjian Li, Yu Lu, Kanglu Pei, Jing Wang, Lanchen Wang, Xuegang Wang, Huijun Yuan, Mingjun Zhong

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Germany : Advanced science (Weinheim, Baden-Wurttemberg, Germany) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 714744

 Effective research and clinical application in audiology and hearing loss (HL) require the integration of diverse data, yet the absence of a dedicated database impedes understanding and insight extraction in HL. To address this, the Genetic Deafness Commons (GDC) is developed by consolidating extensive genetic and genomic data from 51 public databases and the Chinese Deafness Genetics Consortium. This repository comprises 5 983 613 variants across 201 HL genes, revealing the genetic landscape of HL and identifying six novel mutational hotspots within the DNA-binding domains of transcription factors. Comparative phenotypic analyses highlighted considerable disparities between human and mouse models. Among the 201 human HL genes, 133 exhibit hearing abnormalities in mice
  35 have been tested in mice without exhibiting a hearing loss phenotype
  and 33 lack auditory testing data. Moreover, gene expression analyses in the cochleae of mice, humans, and rhesus macaques demonstrated a notable correlation (R
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