category
bioRxiv
date
Mar 10, 2026
slug
status
Published
summary
创新性提出直接从短读长序列分型罗伯逊易位的方法,首次在近端着丝粒染色体发现DJ区域的结构变异(损失/获得),并基于超大规模队列(49万样本)验证ROB发生率。
tags
测序技术
type
Post

📄 原文题目

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

🔗 原文链接

💡 AI 核心解读

创新性提出直接从短读长序列分型罗伯逊易位的方法,首次在近端着丝粒染色体发现DJ区域的结构变异(损失/获得),并基于超大规模队列(49万样本)验证ROB发生率。

📝 英文原版摘要

Balanced Robertsonian translocation (ROB) is the most common chromosomal rearrangement, with an estimated occurrence of 1:800 in newborns. Carriers are at increased risk of cancer and often diagnosed after facing recurrent miscarriages, infertility, or aneuploid offspring. Genotyping carriers with DNA sequencing has been challenging due to incomplete sequences of the fusion site in the human reference. Only recently, the acrocentric short arms were successfully characterized, including the most common ROB fusion site. A ROB results in loss of two rDNA arrays and its adjacent distal sequences, including the highly conserved distal junction (DJ). Here, we present a novel method to type ROB carriers directly from short reads. Applying to cohorts of healthy newborns (n=4,172) and the UK Biobank (n=490,416), we find candidate ROBs at a consistent frequency (0.11-0.12%). We report uncharacterized structural variations of one DJ loss (2.8-3.4%) or gain (8.4-9.3%) found in near telomere-to-telomere genomes of the HPRC.
灵长类动物X连锁扩增基因的普遍正选择控制亚麻油吸附的定量性状位点:定位与意义
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