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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,...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451136/ https://www.ncbi.nlm.nih.gov/pubmed/30698752 http://dx.doi.org/10.1093/nar/gkz031 |