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SVIM: structural variant identification using mapped long reads
MOTIVATION: Structural variants are defined as genomic variants larger than 50 bp. They have been shown to affect more bases in any given genome than single-nucleotide polymorphisms or small insertions and deletions. Additionally, they have great impact on human phenotype and diversity and have been...
Autores principales: | Heller, David, Vingron, Martin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735718/ https://www.ncbi.nlm.nih.gov/pubmed/30668829 http://dx.doi.org/10.1093/bioinformatics/btz041 |
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