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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Detalles Bibliográficos
Autores principales: Homburger, Julian R., Neben, Cynthia L., Mishne, Gilad, Zhou, Alicia Y., Kathiresan, Sekar, Khera, Amit V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880438/
https://www.ncbi.nlm.nih.gov/pubmed/31771638
http://dx.doi.org/10.1186/s13073-019-0682-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880438/
https://www.ncbi.nlm.nih.gov/pubmed/31771638
http://dx.doi.org/10.1186/s13073-019-0682-2

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