SpliceVarDB
收藏国家生物信息中心2025-10-11 更新2025-08-23 收录
下载链接：
https://splicevardb.org
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资源简介：
SpliceVarDB is a comprehensive online database consolidating over 50,000 functionally validated human DNA variants assayed for their effects on splicing, establishing a standardized "spliceogenicity scale" to classify variants. It aims to overcome barriers in variant interpretation by providing crucial evidence for diagnostic curation and improving computational splicing prediction, particularly for non-canonical (including deep intronic) splice-altering variants.
SpliceVarDB是一款综合性在线数据库，整合了超50000种经功能验证的人类DNA变异，所有变异均经实验检测以明确其对RNA剪接的影响，并建立了标准化的剪接效应分级量表（spliceogenicity scale）用于变异分类。该数据库旨在克服变异解读领域的现有障碍，可为诊断性变异整理提供关键证据，同时优化计算剪接预测性能，尤其针对非经典（含内含子深层）剪接改变变异。
提供机构：
UNSW Sydney
创建时间：
2025-07-01
搜集汇总
数据集介绍
背景与挑战
背景概述
SpliceVarDB is a specialized database for experimentally validated splice-altering variants, supporting submissions of published, preprint, and unpublished variants. It requires registration for data access and has specific licensing terms. The dataset includes detailed variant information with validation methods and classifications.
以上内容由遇见数据集搜集并总结生成
