vizER

A novel annotation incorporating constrained, non-conserved metrics to highlight human-lineage-specific genomic regions is generated, which prioritises genes and transcripts of relevance to disease, specifically in the identification of functionally important non-coding genomic regions. Thus this online web resource, vizER, is developed with the primary goal of aiding clinical scientists and clinicians to visualise misannotations of any gene of interest, enabling better variant prioritisation and as a result, diagnosis of both Mendelian disorders and complex genetics diseases.本研究生成了一种融合约束性非保守度量指标的新型基因组注释方案，用于凸显人谱系特异性基因组区域，并优先筛选与疾病相关的基因及转录本，尤其聚焦于功能重要的非编码基因组区域的识别。据此，本团队开发了在线网络资源vizER，其核心目标为协助临床科学家与临床医师可视化任意目标基因的错误注释，实现更精准的变异优先级排序，最终助力孟德尔遗传病及复杂遗传疾病的临床诊断。

搜集汇总

背景与挑战

背景概述

vizER是一个在线资源，旨在通过结合约束性非保守性指标来识别人类谱系特异性基因组区域，优先关注与疾病相关的基因和转录本。它帮助临床科学家和医生可视化基因错误标注，以改善变异优先排序和疾病诊断。