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Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

BACKGROUND: Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Homburger, Julian R., Neben, Cynthia L., Mishne, Gilad, Zhou, Alicia Y., Kathiresan, Sekar, Khera, Amit V.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6880438/
https://ncbi.nlm.nih.gov/pubmed/31771638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0682-2
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