category
Nature Genetics
date
Mar 27, 2026
slug
status
Published
summary
通过大规模全外显子组测序结合电子健康记录，发现新基因-表型关联，识别2991个罕见双等位基因功能缺失相关基因，揭示高同源合子人群遗传特征。
tags
测序技术
type
Post
📄 原文题目
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
🔗 原文链接
💡 AI 核心解读
通过大规模全外显子组测序结合电子健康记录，发现新基因-表型关联，识别2991个罕见双等位基因功能缺失相关基因，揭示高同源合子人群遗传特征。
📝 英文原版摘要
<p>Nature Genetics, Published online: 27 March 2026; <a href="https://www.nature.com/articles/s41588-026-02553-7">doi:10.1038/s41588-026-02553-7</a></p>An analysis of whole-exome sequencing data linked to longitudinal electronic health records from 44,028 British South Asians finds new gene–phenotype associations and identifies 2,991 genes with rare biallelic predicted loss-of-function genotypes.
- 作者:NotionNext
- 链接:https://tangly1024.com/article/33048bd6-1f96-812e-b527-c3604d2452b6
- 声明:本文采用 CC BY-NC-SA 4.0 许可协议，转载请注明出处。
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