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Significant abundance of cis configurations of coding variants in diploid human genomes

To fully understand human genetic variation and its functional consequences, the specific distribution of variants between the two chromosomal homologues of genes must be known. The ‘phase’ of variants can significantly impact gene function and phenotype. To assess patterns of phase at large scale,...

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Bibliografski detalji
Izdano u:Nucleic Acids Res
Glavni autori: Hoehe, Margret R, Herwig, Ralf, Mao, Qing, Peters, Brock A, Drmanac, Radoje, Church, George M, Huebsch, Thomas
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451136/
https://ncbi.nlm.nih.gov/pubmed/30698752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz031
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