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Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data

BACKGROUND: Structural variants (SVs) play a crucial role in gene regulation, trait association, and disease in humans. SV genotyping has been extensively applied in genomics research and clinical diagnosis. Although a growing number of SV genotyping methods for long reads have been developed, a com...

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Detalles Bibliográficos
Autores principales:	Duan, Xiaoke, Pan, Mingpei, Fan, Shaohua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034514/ https://www.ncbi.nlm.nih.gov/pubmed/35461238 http://dx.doi.org/10.1186/s12864-022-08548-y

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