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Targeted short read sequencing and assembly of re-arrangements and candidate gene loci provide megabase diplotypes
The human genome is composed of two haplotypes, otherwise called diplotypes, which denote phased polymorphisms and structural variations (SVs) that are derived from both parents. Diplotypes place genetic variants in the context of cis-related variants from a diploid genome. As a result, they provide...
Autores principales: | , , , , , , |
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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/PMC6821272/ https://www.ncbi.nlm.nih.gov/pubmed/31350896 http://dx.doi.org/10.1093/nar/gkz661 |