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A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies

<b>Background:</b> Structural variants (SVs) play a significant role in gene function and are implicated in numerous human diseases. With advances in sequencing technologies, identifying SVs through whole-genome sequencing (WGS) has become a key area of research. However, variability in SV detection...

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Principais autores: Giuseppe Giovanni Nardone, Valentina Andrioletti, Aurora Santin, Anna Morgan, Beatrice Spedicati, Maria Pina Concas, Paolo Gasparini, Giorgia Girotto, Ivan Limongelli
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2025-08-01
coleção:Biomedicines
Assuntos:
whole-genome sequencing
structural variants
long reads
best practices
variant calling
benchmark
Acesso em linha:https://www.mdpi.com/2227-9059/13/8/1949
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