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Updated: Jan 12, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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ClairS-TO:一种深度学习方法,用于长期读取的瘤单体体质小变异,称为ClairS-TO

Lei Chen1, Zhenxian Zheng2, Junhao Su1

  • 1School of Computing and Data Science, The University of Hong Kong, Hong Kong, China.

Nature communications
|November 1, 2025
PubMed
概括

在瘤中精确检测体质变异至关重要. ClairS-TO是一种新的深度学习工具,可从长期读取的测序数据中实现可靠的瘤单体变异调用,改善癌症研究和临床应用.

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Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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