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基于下一代测序的回文形成全基因组分析(GAPF-Seq)和一种用于评估癌症基因组中从头发生的回文的生物信息学分析方法。

Genome-Wide Analysis of Palindrome Formation with Next-Generation Sequencing (GAPF-Seq) and a Bioinformatics Pipeline for Assessing De Novo Palindromes in Cancer Genomes.

机构信息

Department of Surgery, Cedars-Sinai Medical Center, West Hollywood, CA, USA.

Department of Surgery, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, West Hollywood, CA, USA.

出版信息

Methods Mol Biol. 2023;2660:13-22. doi: 10.1007/978-1-0716-3163-8_2.

Abstract

DNA palindromes are a type of chromosomal aberration that appears frequently during tumorigenesis. They are characterized by sequences of nucleotides that are identical to their reverse complements and often arise due to illegitimate repair of DNA double-strand breaks, fusion of telomeres, or stalled replication forks, all of which are common adverse early events in cancer. Here, we describe the protocol for enriching palindromes from genomic DNA sources with low-input DNA amounts and detail a bioinformatics tool for assessing the enrichment and location of de novo palindrome formation from low-coverage whole-genome sequencing data.

摘要

DNA 回文结构是一种染色体畸变,在肿瘤发生过程中频繁出现。它们的特征是核苷酸序列与其反向互补序列完全相同,通常是由于 DNA 双链断裂的不当修复、端粒融合或停滞的复制叉引起的,所有这些都是癌症中常见的早期不利事件。在这里,我们描述了一种从低输入量基因组 DNA 来源中富集回文结构的方案,并详细介绍了一种用于评估从头开始形成的回文结构在低覆盖全基因组测序数据中的富集和位置的生物信息学工具。

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