Article

Bridging Short- and Long-Read Structural Variation Detection with SurVeyor

2025-11-10

Abstract excerpt

<title>Abstract</title> <p>Structural variations (SVs) are a major source of genomic diversity and disease, yet accurate detection and genotyping with short-read sequencing remain a longstanding challenge, with existing approaches missing large fractions of variants. We present SurVeyor, a unified, cohort-aware pipeline that significantly advances the state of the art for SV discovery and genotyping from short re...

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Literature Corpus work: 3c9f6e77-3506-5485-9afc-30732eb3ef1a
DOI: 10.21203/rs.3.rs-7732239/v1

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