Article

Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing

2024-11-05

Abstract excerpt

Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time and overall cost of testing. In this study, we used long-read sequencing (lrSeq) as a proof-of-concept to determine whether clinically relevant (cr) SVs could be detected wit...

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Literature Corpus work: 1918093b-5285-5ab6-80db-cfea10354f83
DOI: 10.1101/2024.11.05.24316078

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Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencingDOI 10.1101/2024.11.05.24316078Read

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