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Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms...
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Publicado en: | Nat Commun |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado: |
Nature Publishing Group UK
2019
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Assuntos: | |
Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6467913/ https://ncbi.nlm.nih.gov/pubmed/30992455 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-08148-z |
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