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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...
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| Pubblicato in: | Bioinformatics |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6735718/ https://ncbi.nlm.nih.gov/pubmed/30668829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btz041 |
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