四川大学Huijun Yuan等研究人员合作开发出非编码变异注释和解释数据库。这一研究成果于2023年12月23日在线发表在国际学术期刊《遗传学报》上。

研究人员开发了非编码变异注释数据库（NCAD，http://www.ncawdb.net/），其中包含对665679194 个变异、调控元件和元件相互作用细节的全面了解。NCAD v1.0整合了96个来源的数据，跨越了GRCh37和GRCh38两个版本，提供了支持非编码变异基因诊断的重要信息，包括12个不同人群的等位基因频率，特别是20964个中国人中230235698个变异的人群频率信息。

此外，它还提供了变异功能、五类调控元件和四类非编码RNA的预测分数。凭借其丰富的数据和全面的覆盖范围，NCAD有望成为一个宝贵的平台，使研究人员和临床医生能够深入了解非编码调控机制，同时促进对非编码变异的解释。

据悉，全基因组测序在各种遗传疾病的临床诊断中的应用正在不断扩大，非编码变异在渗透性疾病中的重要性也日益得到证实。因此，迫切需要通过探索非编码区变异的致病机制来提高诊断率。然而，由于非编码区复杂的功能调控机制以及现有数据库和工具的局限性，对非编码变异的解读仍是一项重大挑战。

附：英文原文

Title: NCAD v1.0: a database for non-coding variant annotation and interpretation

Author: anonymous

Issue&Volume: 2023/12/23

Abstract: The application of whole genome sequencing is expanding in clinical diagnostics across various genetic disorders, and the significance of non-coding variants in penetrant diseases is increasingly being demonstrated. Therefore, it is urgent to improve the diagnostic yield by exploring the pathogenic mechanisms of variants in non-coding regions. However, the interpretation of non-coding variants remains a significant challenge, due to the complex functional regulatory mechanisms of non-coding regions and the current limitations of available databases and tools. Hence, we develop the Non-coding Variant Annotation Database (NCAD, http://www.ncawdb.net/), encompassing comprehensive insights into 665,679,194 variants, regulatory elements, and element interaction details. Integrating data from 96 sources, spanning both GRCh37 and GRCh38 versions, NCAD v1.0 provides vital information to support the genetic diagnosis of non-coding variants, including allele frequencies of 12 diverse populations, with a particular focus on the population frequency information for 230,235,698 variants in 20,964 Chinese individuals. Moreover, it offers prediction scores for variant functionality, five categories of regulatory elements, and four types of non-coding RNAs. With its rich data and comprehensive coverage, NCAD serves as a valuable platform, empowering researchers and clinicians with profound insights into non-coding regulatory mechanisms while facilitating the interpretation of non-coding variants.

DOI: 10.1016/j.jgg.2023.12.005

Source: https://www.sciencedirect.com/science/article/abs/pii/S1673852723002576