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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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Bibliographische Detailangaben
Veröffentlicht in:Nucleic Acids Res
Hauptverfasser: Shin, GiWon, Greer, Stephanie U, Xia, Li C, Lee, HoJoon, Zhou, Jun, Boles, T Christian, Ji, Hanlee P
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
Schlagworte:
Online Zugang: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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