De novo and somatic structural variant discovery with SVision-pro.
Nat Biotechnol
; 2024 Mar 22.
Article
in En
| MEDLINE
| ID: mdl-38519720
ABSTRACT
Long-read-based de novo and somatic structural variant (SV) discovery remains challenging, necessitating genomic comparison between samples. We developed SVision-pro, a neural-network-based instance segmentation framework that represents genome-to-genome-level sequencing differences visually and discovers SV comparatively between genomes without any prerequisite for inference models. SVision-pro outperforms state-of-the-art approaches, in particular, the resolving of complex SVs is improved, with low Mendelian error rates, high sensitivity of low-frequency SVs and reduced false-positive rates compared with SV merging approaches.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Nat Biotechnol
/
Nat. biotechnol
/
Nature biotechnology
Year:
2024
Document type:
Article