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HOROSCOPE: Decoding human centromere architecture from short reads using <i>k</i> -mer signatures

2026-06-12

Abstract excerpt

Centromeres safeguard genome integrity, yet their roles in human disease remain understudied because of their repetitive sequence. We present HOROSCOPE, a k -mer-based framework that infers centromere architecture and generates centromere length estimates directly from short-read data. Using a reference atlas of 11,836 centromeres from telomere-to-telomere haplotypes, we derive diagnostic k -mer signatures that...

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Identifiers and source

Literature Corpus work
f50f4c1f-cf0d-5175-84dd-5757a5a55eaf
DOI
10.64898/2026.06.10.731283
Open publication

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HOROSCOPE: Decoding human centromere architecture from short reads using <i>k</i> -mer signaturesDOI 10.64898/2026.06.10.731283
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