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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...

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Detalles Bibliográficos
Publicado en:Nucleic Acids Res
Main Authors: Shin, GiWon, Greer, Stephanie U, Xia, Li C, Lee, HoJoon, Zhou, Jun, Boles, T Christian, Ji, Hanlee P
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6821272/
https://ncbi.nlm.nih.gov/pubmed/31350896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz661
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