基础(拓扑)
计算生物学
分辨率(逻辑)
碱基对
计算机科学
遗传学
生物
DNA
人工智能
数学
数学分析
作者
Yingzi Zhang,Chongwei Bi,Seba Nadeef,Sateesh Maddirevula,Mashael Alqahtani,Fowzan S. Alkuraya,Mo Li
出处
期刊:Med
[Elsevier]
日期:2024-07-01
标识
DOI:10.1016/j.medj.2024.07.003
摘要
Delineating base-resolution breakpoints of complex rearrangements is crucial for an accurate clinical understanding of pathogenic variants and for carrier screening within family networks or the broader population. However, despite advances in genetic testing using short-read sequencing (SRS), this task remains costly and challenging.
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