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SVision-pro: comparative sequence-to-image representation and instance segmentation for de novo and somatic structural variant discovery

2023-08-03

Abstract excerpt

<title>Abstract</title> <p>Long-read based <italic>de novo</italic> and somatic structural variant (SV) discovery remains challenging, necessitating genomic comparison between samples. Here, SVision-pro visually represents genome-to-genome-level sequencing differences and comparatively discoveries SV between genomes by a neural-network-based instance segmentation framework without prerequisite of SV inference mod...

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Literature Corpus work
baf9c360-d717-57d4-9c2f-825090a05295
DOI
10.21203/rs.3.rs-3224609/v1
Open publication

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SVision-pro: comparative sequence-to-image representation and instance segmentation for de novo and somatic structural variant discoveryDOI 10.21203/rs.3.rs-3224609/v1
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