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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
Autores principales: Shin, GiWon, Greer, Stephanie U, Xia, Li C, Lee, HoJoon, Zhou, Jun, Boles, T Christian, Ji, Hanlee P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
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