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DNA replication errors drive genome-wide small inverted triplication dynamics

2025-12-29

Abstract excerpt

Structural variants (SVs) have a profound impact on phenotype and diversity and are associated with human diseases. To explore the origination of SVs, we have analyzed 1,340 cancer genomes with annotation of 4,608 novel small inverted triplication (SIT) events and found that FEN1 is strongly associated with SIT incidence. Then, we performed long-read sequencing and developed PacBioR to annotate SITs in yeast FEN1...

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Literature Corpus work
7b3c40df-d6d7-534d-8a08-728d3a644c71
DOI
10.64898/2025.12.26.696596
Open publication

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DNA replication errors drive genome-wide small inverted triplication dynamicsDOI 10.64898/2025.12.26.696596
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