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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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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Hoehe, Margret R, Herwig, Ralf, Mao, Qing, Peters, Brock A, Drmanac, Radoje, Church, George M, Huebsch, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Acesso em linha: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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